rs111033319

plus

Geno	Mag	Summary
(-;-)	0	common in clinvar

Make rs111033319(-;C)

Make rs111033319(C;C)

Reference

GRCh38.p7 38.3/150

Chromosome

MT

Position

7471

is a	snp
is	mentioned by
dbSNP	rs111033319
dbSNP (classic)	rs111033319
ClinGen	rs111033319
ebi	rs111033319
HLI	rs111033319
Exac	rs111033319
Gnomad	rs111033319
Varsome	rs111033319
LitVar	rs111033319
Map	rs111033319
PheGenI	rs111033319
Biobank	rs111033319
1000 genomes	rs111033319
hgdp	rs111033319
ensembl	rs111033319
geneview	rs111033319
scholar	rs111033319
google	rs111033319
pharmgkb	rs111033319
gwascentral	rs111033319
openSNP	rs111033319
23andMe	rs111033319
SNPshot	rs111033319
SNPdbe	rs111033319
MSV3d	rs111033319
GWAS Ctlg	rs111033319

Max Magnitude

0

ClinVar
Risk	rs111033319(C;C)
Alt	rs111033319(C;C)
Reference	Rs111033319(-;-)
Significance	Pathogenic
Disease	Mitochondrial cytochrome c oxidase deficiency Deafness
Variation	info
Gene
CLNDBN	Mitochondrial cytochrome c oxidase deficiency Deafness, sensorineural, with neurologic features Deafness, nonsyndromic sensorineural, mitochondrial
Reversed	0
HGVS	NC_012920.1:m.7471dupC
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000010178.2, RCV000022905.2, RCV000035051.3,

[PMID 7581383] Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

[PMID 9708714] Early-onset sensorineural hearing loss and late-onset neurologic complaints caused by a mitochondrial mutation at position 7472.

[PMID 9832034 ] A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

[PMID 10094190] Hearing impairment and neurological dysfunction associated with a mutation in the mitochondrial tRNASer(UCN) gene.

[PMID 11378827] Multiple origins of the mtDNA 7472insC mutation associated with hearing loss and neurological dysfunction.