chr11:67250693:C>T Detail (hg19) (AIP)

Information

Genome

Assembly Position
hg19 chr11:67,250,693-67,250,693
hg38 chr11:67,483,222-67,483,222 View the variant detail on this assembly version.

HGVS

Type Transcript Protein
RefSeq NM_001302959.1:c.64C>T NP_001289888.1:p.Arg22Ter
NM_001302960.1:c.64C>T NP_001289889.1:p.Arg22Ter
NM_003977.3:c.64C>T NP_003968.3:p.Arg22Ter
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 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
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2007-05-01 no assertion criteria provided Somatotroph adenoma germline unknown Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.241 Growth Hormone-Secreting Pituitary Adenoma NA CLINVAR Detail
Annotation

Annotations

DescrptionSourceLinks
NM_003977.4(AIP):c.64C>T (p.Arg22Ter) AND Somatotroph adenoma ClinVar Detail
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
rs121908357 dbSNP
Genome
hg19
Position
chr11:67,250,693-67,250,693
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser