chr1:161310428:G>A Detail (hg19) (SDHC)

Information

Genome

Assembly Position
hg19 chr1:161,310,428-161,310,428
hg38 chr1:161,340,638-161,340,638 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001035513.1:c.65G>A NP_001030590.1:p.Gly22Asp
NM_001035511.1:c.224G>A NP_001030588.1:p.Gly75Asp
NM_001035512.1:c.122G>A NP_001030589.1:p.Gly41Asp
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 602413 OMIM
HGNC 10682 HGNC
Ensembl ENSG00000143252 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Likely pathogenic no assertion criteria provided Carney triad germline Detail
Pathogenic 2020-06-01 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2021-10-25 criteria provided, single submitter gastrointestinal stromal tumor,Paragangliomas 3 germline Detail
Likely pathogenic 2021-10-25 criteria provided, single submitter gastrointestinal stromal tumor,Paragangliomas 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.121 Carney triad NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) AND Carney triad ClinVar Detail
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) AND multiple conditions ClinVar Detail
NM_003001.5(SDHC):c.224G>A (p.Gly75Asp) AND multiple conditions ClinVar Detail
NA DisGeNET 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
rs786205147 dbSNP
Genome
hg19
Position
chr1:161,310,428-161,310,428
Variant Type
snv
Reference Allele
G
Alternative Allele
A
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