chr11:67490059:C>T Detail (hg38) (AIP)

Information

Genome

Assembly Position
hg19 chr11:67,257,530-67,257,530 View the variant detail on this assembly version.
hg38 chr11:67,490,059-67,490,059

HGVS

Type Transcript Protein
RefSeq NM_001302959.1:c.490C>T NP_001289888.1:p.Gln164Ter
NM_001302960.1:c.490C>T NP_001289889.1:p.Gln164Ter
NM_003977.3:c.490C>T NP_003968.3:p.Gln164Ter
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
not provided no assertion provided Somatotroph adenoma unknown Detail
Pathogenic 2019-03-26 criteria provided, single submitter Hereditary cancer-predisposing syndrome germline 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.490C>T (p.Gln164Ter) AND Somatotroph adenoma ClinVar Detail
NM_003977.4(AIP):c.490C>T (p.Gln164Ter) AND Hereditary cancer-predisposing syndrome 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
rs104895073 dbSNP
Genome
hg38
Position
chr11:67,490,059-67,490,059
Variant Type
snv
Reference Allele
C
Alternative Allele
T
Genome browser