chr5:112174762:GAGA> Detail (hg19) (APC)

Information

Genome

Assembly Position
hg19 chr5:112,174,762-112,174,765
hg38 chr5:112,839,065-112,839,068 

HGVS

Type Transcript Protein
RefSeq NM_000038.5:c.3471_3474delGAGA NP_000029.2:p.Glu1157AspfsTer7
NM_001127511.2:c.3417_3420delGAGA NP_001120983.2:p.Glu1139AspfsTer7
NM_001127510.2:c.3471_3474delGAGA NP_001120982.1:p.Glu1157AspfsTer7
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 611731 OMIM
HGNC 583 HGNC
Ensembl ENSG00000134982 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
0.121 Neoplastic Syndromes, Hereditary NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
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
rs786203020 dbSNP
Genome
hg19
Position
chr5:112,174,762-112,174,765
Variant Type
snv
Reference Allele
GAGA
Alternative Allele
-
Genome browser