Variant: 2-238475250-C-A



Variant

Variant ID Consequence Effect Gene AC AN AF NS NHOM maxEAF
2-238475250-C-A p.Leu12Met missense PRLH 46 80990 5.679714E-4 40495 0 0.00110383


Annotation

Effect Gene Transcript HGVS_c HGVS_p PolyPhen
missense PRLH ENST00000165524 c.34C>A p.Leu12Met NA
downstream_gene RNU6-1140P ENST00000410517 n.*3337C>A NA NA


External AF

ExAC Genome Asia gnomAD Exome gnomAD Genome GME Variome Iranome TOPMED
0.00110383 NA 4.33271E-4 NA 5.09684E-4 NA NA


Carrier

Gender count:
Ancestry count:

Public Available Gender Phenotype Ancestry GT DP Percent Alt Read GQ FILTER
Yes F epilepsy Caucasian HET 61 0.5409836 99 PASS
Yes F kidney and urological disease Caucasian HET 36 0.44444445 99 PASS
Yes F epilepsy Hispanic HET 37 0.5135135 99 PASS
Yes M kidney and urological disease Caucasian HET 58 0.5344828 99 PASS
Yes F epilepsy Caucasian HET 70 0.3857143 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 82 0.4512195 99 PASS
Yes M kidney and urological disease Caucasian HET 9 0.5555556 99 PASS
Yes M kidney and urological disease Caucasian HET 44 0.5 99 PASS
Yes M kidney and urological disease Hispanic HET 37 0.43243244 99 PASS
Yes F NA Caucasian HET 38 0.42105263 99 PASS
Yes F kidney and urological disease Caucasian HET 35 0.37142858 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 41 0.5121951 99 PASS
Yes F epilepsy Caucasian HET 67 0.3432836 99 PASS
Yes M healthy family member African HET 84 0.42857143 99 PASS
Yes M kidney and urological disease Caucasian HET 17 0.5294118 99 PASS
Yes F epilepsy Caucasian HET 43 0.37209302 99 PASS
Yes F amyotrophic lateral sclerosis Caucasian HET 90 0.4888889 99 PASS
Yes M amyotrophic lateral sclerosis Caucasian HET 32 0.40625 99 PASS
Yes M epilepsy Caucasian HET 55 0.45454547 99 PASS
Yes F control Caucasian HET 48 0.375 99 PASS
Yes F kidney and urological disease Caucasian HET 46 0.47826087 99 PASS
Yes F obsessive compulsive disorder Caucasian HET 17 0.47058824 99 PASS
Yes M healthy family member Hispanic HET 54 0.4814815 99 PASS
Yes F control Caucasian HET 29 0.41379312 99 PASS
Yes M kidney and urological disease Caucasian HET 57 0.47368422 99 PASS
Yes M kidney and urological disease Caucasian HET 23 0.6086956 99 PASS
Yes F kidney and urological disease Caucasian HET 36 0.5555556 99 PASS
Yes M NA Hispanic HET 28 0.64285713 99 PASS
Yes F healthy family member Caucasian HET 39 0.3846154 99 PASS
Yes M brain malformation Caucasian HET 30 0.43333334 99 PASS
Yes F kidney and urological disease Caucasian HET 33 0.6060606 99 PASS
Yes F epilepsy African HET 134 0.52238804 99 PASS
Yes M healthy family member Caucasian HET 10 0.4 93 PASS
Yes F kidney and urological disease Caucasian HET 100 0.51 99 PASS
Yes F pulmonary disease Caucasian HET 31 0.4516129 99 PASS
Yes F dementia African HET 46 0.45652175 99 PASS
Yes F healthy family member Caucasian HET 12 0.5 99 PASS
Yes F healthy family member African HET 37 0.4054054 99 PASS
Yes F epilepsy Caucasian HET 38 0.5 99 PASS
Yes F epilepsy African HET 168 0.48214287 99 PASS
Yes F kidney and urological disease Caucasian HET 77 0.35064936 99 PASS
Yes M ophthalmic disease Caucasian HET 39 0.61538464 99 LIKELY
Yes M pulmonary disease Caucasian HET 33 0.45454547 99 PASS
Yes M kidney and urological disease Caucasian HET 33 0.3939394 99 PASS
Yes M amyotrophic lateral sclerosis MiddleEastern HET 37 0.4864865 99 PASS
Yes M healthy family member Caucasian HET 67 0.47761193 99 PASS