1:8419868-8419869 - > CTCCTT

Classification

Category 4 curation
CMH MAF 105 / 13144 samples (0.799%)
104 het., 1 hom. (99%)
106 / 26288 total alleles (0.403%)

gene: RERE synonym(s): ARG, ARP, ATN1L, DNB1, RERE, ENSG00000142599

OMIM
OMIM:605226: RERE
OMIM:616975: Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart

NM_012102.3 [CDS]
hgvs_c: NM_012102.3:c.3568_3573dupAAGGAG
variant AA: KE
variant codon: AAGGAG
cDNA pos: 4383
CDS pos: 3573
translation impact: in_frame_indel
protein sequence: NP_036234.3
AA pos: 1191
hgvs_p: NP_036234.3:p.Lys1190_Glu1191dup

rs754336279
TOPMED_MAF = 0.01309250764525993
rs758858690

gnomAD African, (1089 / 24604), 4.43% curated_classification = 4