chr1:161326605:A>G Detail (hg19) (SDHC)

Information

Genome

Assembly Position
hg19 chr1:161,326,605-161,326,605
hg38 chr1:161,356,815-161,356,815 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_003001.3:c.380A>G NP_002992.1:p.His127Arg
NM_001278172.1:c.140-5514A>G
NM_001035513.1:c.221A>G NP_001030590.1:p.His74Arg
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
Pathogenic 2021-05-27 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline Detail
Likely pathogenic 2022-12-03 criteria provided, single submitter not provided germline Detail
Pathogenic 2024-01-16 criteria provided, single submitter Paragangliomas 3,gastrointestinal stromal tumor germline Detail
Pathogenic 2024-01-16 criteria provided, single submitter Paragangliomas 3,gastrointestinal stromal tumor germline Detail
Pathogenic Likely pathogenic 2023-10-06 criteria provided, multiple submitters, no conflicts gastrointestinal stromal tumor germline unknown Detail
Likely pathogenic 2023-10-02 criteria provided, multiple submitters, no conflicts Hereditary pheochromocytoma-paraganglioma germline Detail
Likely pathogenic 2024-02-08 criteria provided, multiple submitters, no conflicts Paragangliomas 3 unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.120 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND not provided ClinVar Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND multiple conditions ClinVar Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND multiple conditions ClinVar Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND Gastrointestinal stromal tumor ClinVar Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND Hereditary pheochromocytoma-paraganglioma ClinVar Detail
NM_003001.5(SDHC):c.380A>G (p.His127Arg) AND Paragangliomas 3 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
rs786203457 dbSNP
Genome
hg19
Position
chr1:161,326,605-161,326,605
Variant Type
snv
Reference Allele
A
Alternative Allele
G
Genome browser