chr1:45333171:C>T Detail (hg38) (MUTYH)

Information

Genome

Assembly Position
hg19 chr1:45,798,843-45,798,843 View the variant detail on this assembly version.
hg38 chr1:45,333,171-45,333,171

HGVS

Type Transcript Protein
RefSeq NM_001048172.1:c.305-1G>A
NM_001048173.1:c.305-1G>A
NM_001293196.1:c.305-1G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 604933 OMIM
HGNC 7527 HGNC
Ensembl ENSG00000132781 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 2023-04-26 criteria provided, multiple submitters, no conflicts Hereditary cancer-predisposing syndrome germline Detail
Pathogenic 2024-02-05 criteria provided, multiple submitters, no conflicts familial adenomatous polyposis 2 germline unknown Detail
Pathogenic no assertion criteria provided not provided 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_001048174.2(MUTYH):c.305-1G>A AND Hereditary cancer-predisposing syndrome ClinVar Detail
NM_001048174.2(MUTYH):c.305-1G>A AND Familial adenomatous polyposis 2 ClinVar Detail
NM_001048174.2(MUTYH):c.305-1G>A AND not provided ClinVar Detail
NA DisGeNET Detail

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs372267274 dbSNP
Genome
hg38
Position
chr1:45,333,171-45,333,171
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser