1:8716321-8716322 - > TCTTTG

Classification

Category 4

in_frame_indel

CMH MAF

11 / 9594 samples (0.115%)
11 het., 0 hom. (100%)
11 / 19188 total alleles (0.0573%)

Genes

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

NM_001042681.1 [CDS]
hgvs_c: NM_001042681.1:c.30_35dupCAAAGA
reference AA: E
variant AA: DKE
reference codon: gag
variant codon: gaCAAAGAg
cDNA pos: 660
CDS pos: 35
translation impact: in_frame_indel
protein sequence: NP_001036146.1
AA pos: 12
hgvs_p: NP_001036146.1:p.Asp10_Lys11dup
blosum: 2

NM_012102.3 [CDS] Reportable
hgvs_c: NM_012102.3:c.30_35dupCAAAGA
reference AA: E
variant AA: DKE
reference codon: gag
variant codon: gaCAAAGAg
cDNA pos: 845
CDS pos: 35
translation impact: in_frame_indel
protein sequence: NP_036234.3
AA pos: 12
hgvs_p: NP_036234.3:p.Asp10_Lys11dup
blosum: 2

dbSNP

rs751268683
TOPMED_MAF = 0.00128217380224260
rs764357464
rs368488556

Export Variant

Curation

Likely Benign