chr1:120286577:T>A Detail (hg19) (PHGDH)

Information

Genome

Assembly Position
hg19 chr1:120,286,577-120,286,577
hg38 chr1:119,743,954-119,743,954 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_006623.3:c.1516T>A NP_006614.2:p.Trp506Arg
Ensemble ENST00000641115.1:c.1252T>A ENST00000641115.1:p.Trp418Arg
ENST00000641074.1:c.*95T>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance
Review star [No Data.]
Show details
Links
Type Database ID Link
Gene MIM 606879 OMIM
HGNC 8923 HGNC
Ensembl ENSG00000092621 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
[No Data.]
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.003 liver carcinoma Seven polymorphisms of caspase 9 (rs2308941)C-->T and DOK2(rs2242241) T-->... BeFree 16109524 Detail
<0.001 liver carcinoma Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;... BeFree 16109524 Detail
Annotation

Annotations

DescrptionSourceLinks
Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;G, 6 of polymorphism... DisGeNET Detail
Seven polymorphisms of caspase 9 (rs2308941)C--&gt;T and DOK2(rs2242241) T--&gt;G, 6 of polymorphism... 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
rs1801955 dbSNP
Genome
hg19
Position
chr1:120,286,577-120,286,577
Variant Type
snv
Reference Allele
T
Alternative Allele
A
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