10:50738843-50738843 G > A

Classification

Category 1
CMH MAF 1 / 11422 samples (0.00876%)
1 het., 0 hom. (100%)
1 / 22844 total alleles (0.00438%)

gene: ERCC6-PGBD3 synonym(s): CPFP, CSB-PGBD3, ERCC6-PGBD3

NM_001277059.1 [CDS]
hgvs_c: NM_001277059.1:c.466C>T
reference AA: Q
variant AA: *
reference codon: Cag
variant codon: Tag
cDNA pos: 587
CDS pos: 466
translation impact: premature_stop
protein sequence: NP_001263988.1
AA pos: 156
hgvs_p: NP_001263988.1:p.Gln156Ter
blosum: -4

gene: ERCC6 synonym(s): ARMD5, CKN2, COFS, COFS1, CSB, RAD26, UVSS1, ERCC6, ENSG00000225830

OMIM
OMIM:609413: ERCC6 (Autosomal recessive inheritance)
OMIM:214150: Cerebrooculofacioskeletal syndrome 1
OMIM:133540: Cockayne syndrome, type B
OMIM:278800: De Sanctis-Cacchione syndrome
OMIM:616946: Premature ovarian failure 11
OMIM:600630: UV-sensitive syndrome 1
OMIM:211980: {Lung cancer, susceptibility to}
OMIM:613761: {Macular degeneration, age-related, susceptibility to, 5}

NM_000124.3 [CDS]
hgvs_c: NM_000124.3:c.466C>T
reference AA: Q
variant AA: *
reference codon: Cag
variant codon: Tag
cDNA pos: 642
CDS pos: 466
translation impact: premature_stop
protein sequence: NP_000115.1
AA pos: 156
hgvs_p: NP_000115.1:p.Gln156Ter
blosum: -4

rs751838040
TOPMED_MAF = 0.00001592762487257

212733
clinvar_significance = Pathogenic_Likely_pathogenic
clinvar_disease = Cockayne syndrome B
clinvar_submission_scv = SCV000280636.1

ExAC Non-Finnish, (1 / 66724), 0.0015%
gnomAD Non-Finnish, (2 / 111618), 0.00179%