chr7:73683272:T>C Detail (hg38) (DNAJC30, LOC129998603)

Information

Genome

Assembly Position
hg19 chr7:73,097,602-73,097,602 View the variant detail on this assembly version.
hg38 chr7:73,683,272-73,683,272

HGVS

Type Transcript Protein
RefSeq NM_032317.2:c.152A>G NP_115693.2:p.Tyr51Cys
Ensemble ENST00000395176.3:c.152A>G ENST00000395176.3:p.Tyr51Cys
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

JP HGVD:[No Data.]
ToMMo:[No Data.]
NCBN:[No Data.]
NCBN(Hondo):[No Data.]
NCBN(Ryukyu):[No Data.]
East asia ExAC:<0.001

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 618202 OMIM
HGNC 16410 HGNC
Ensembl ENSG00000176410 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv350026468 TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2019-11-06 criteria provided, single submitter DNAJC30-associated disorder inherited Detail
Pathogenic 2023-03-22 criteria provided, multiple submitters, no conflicts not provided germline Detail
Pathogenic Likely pathogenic 2023-07-10 criteria provided, multiple submitters, no conflicts Leber hereditary optic neuropathy, autosomal recessive germline unknown Detail
Pathogenic criteria provided, single submitter Leber optic atrophy, susceptibility to germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) AND DNAJC30-associated disorder ClinVar Detail
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) AND not provided ClinVar Detail
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) AND Leber hereditary optic neuropathy, autosomal recessiv... ClinVar Detail
NM_032317.3(DNAJC30):c.152A>G (p.Tyr51Cys) AND Leber optic atrophy, susceptibility to ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs61732167 dbSNP
Genome
hg38
Position
chr7:73,683,272-73,683,272
Variant Type
snv
Reference Allele
T
Alternative Allele
C
East Asian Chromosome Counts (ExAC)
8580
East Asian Allele Counts (ExAC)
0
East Asian Heterozygous Counts (ExAC)
0
East Asian Homozygous Counts (ExAC)
0
East Asian Allele Frequency (ExAC)
0.0
Chromosome Counts in All Race (ExAC)
119640
Allele Counts in All Race (ExAC)
105
Heterozygous Counts in All Race (ExAC)
105
Homozygous Counts in All Race (ExAC)
0
Allele Frequency in All Race (ExAC)
8.776328986960883E-4
Genome browser