chr11:67483232:TCCCGGAC>CCCCGAT Detail (hg38) (AIP)

Information

Genome

Assembly Position
hg19 chr11:67,250,703-67,250,710 View the variant detail on this assembly version.
hg38 chr11:67,483,232-67,483,239

HGVS

Type Transcript Protein
RefSeq NM_001302959.1:c.74_81delinsCCCCGAT NP_001289888.1:p.Leu25ProfsTer131
NM_001302960.1:c.74_81delinsCCCCGAT NP_001289889.1:p.Leu25ProfsTer131
NM_003977.3:c.74_81delinsCCCCGAT NP_003968.3:p.Leu25ProfsTer131
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 605555 OMIM
HGNC 358 HGNC
Ensembl ENSG00000110711 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
0.241 Growth Hormone-Secreting Pituitary Adenoma 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
rs104895074 dbSNP
Genome
hg38
Position
chr11:67,483,232-67,483,239
Variant Type
snv
Reference Allele
TCCCGGAC
Alternative Allele
CCCCGAT
Genome browser