chr11:67256882:C>T Detail (hg19) (AIP)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:67,256,882-67,256,882 |
hg38 | chr11:67,489,411-67,489,411 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001302959.1:c.424C>T | NP_001289888.1:p.Gln142Ter |
NM_001302960.1:c.424C>T | NP_001289889.1:p.Gln142Ter | |
NM_003977.3:c.424C>T | NP_003968.3:p.Gln142Ter |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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no assertion provided | Somatotroph adenoma |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.241 | Growth Hormone-Secreting Pituitary Adenoma | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_003977.4(AIP):c.424C>T (p.Gln142Ter) 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
- rs267606552 dbSNP
- Genome
- hg19
- Position
- chr11:67,256,882-67,256,882
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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