ARID1A p.Pro320Leu (p.P320L) Detail (hg19) (ARID1A)

Information

Genome

Assembly Position
hg19 chr1:27,023,853-27,023,853
hg38 chr1:26,697,362-26,697,362 

HGVS

Type Transcript Protein
RefSeq NM_139135.2:c.959C>T NP_624361.1:p.Pro320Leu
NM_006015.4:c.959C>T NP_006006.3:p.Pro320Leu
Ensemble ENST00000457599.7:c.959C>T ENST00000457599.7:p.Pro320Leu
Summary

MGeND

Clinical significance not provided
Variant entry 1
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 603024 OMIM
HGNC 11110 HGNC
Ensembl ENSG00000117713 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC COSM3943838 COSMIC
MONDO
Disease area statistics
MGeND
Clinical significance Last evaluated Condition Origin Submission ID Submitter Institute Citation Comment Image
not provided sigmoid colon not provided MGS000042
(TMGS000093) 		Hitoshi Nakagama National Cancer Center Japan
ClinVar
[No Data.]
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

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
-
Genome
hg19
Position
chr1:27,023,853-27,023,853
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser