chr11:67254543:C>T Detail (hg19) (AIP, LOC130006206)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr11:67,254,543-67,254,543 |
hg38 | chr11:67,487,072-67,487,072 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001302959.1:c.166C>T | NP_001289888.1:p.Arg56Cys |
NM_001302960.1:c.166C>T | NP_001289889.1:p.Arg56Cys | |
NM_003977.3:c.166C>T | NP_003968.3:p.Arg56Cys |
Summary
MGeND
Clinical significance | |
Variant entry | |
GWAS entry | |
Disease area statistics | Show details |
Frequency
JP | HGVD:[No Data.] |
ToMMo:[No Data.] | |
NCBN:[No Data.] | |
NCBN(Hondo):[No Data.] | |
NCBN(Ryukyu):[No Data.] | |
East asia | ExAC:<0.001 |
Prediction
ClinVar
Clinical Significance |
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Review star | ![]() |
Show details |
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2017-04-27 | criteria provided, single submitter | Somatotroph adenoma |
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Detail |
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2023-12-22 | criteria provided, multiple submitters, no conflicts | not provided |
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Detail |
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2023-03-14 | criteria provided, single submitter | Hereditary cancer-predisposing syndrome |
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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.166C>T (p.Arg56Cys) AND Somatotroph adenoma | ClinVar | Detail |
NM_003977.4(AIP):c.166C>T (p.Arg56Cys) AND not provided | ClinVar | Detail |
NM_003977.4(AIP):c.166C>T (p.Arg56Cys) 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
- rs267606538 dbSNP
- Genome
- hg19
- Position
- chr11:67,254,543-67,254,543
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
- East Asian Chromosome Counts (ExAC)
- 8642
- East Asian Allele Counts (ExAC)
- 0
- East Asian Heterozygous Counts (ExAC)
- 0
- East Asian Homozygous Counts (ExAC)
- 0
- East Asian Allele Frequency (ExAC)
- 0.0
- Chromosome Counts in All Race (ExAC)
- 121126
- Allele Counts in All Race (ExAC)
- 2
- Heterozygous Counts in All Race (ExAC)
- 2
- Homozygous Counts in All Race (ExAC)
- 0
- Allele Frequency in All Race (ExAC)
- 1.651173158529135E-5
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