chr7:117652915:G>A Detail (hg38) (CFTR)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr7:117,292,969-117,292,969 View the variant detail on this assembly version. |
hg38 | chr7:117,652,915-117,652,915 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_000492.3:c.3947G>A | NP_000483.3:p.Trp1316Ter |
Ensemble | ENST00000003084.11:c.3947G>A | ENST00000003084.11:p.Trp1316Ter |
ENST00000649781.2:c.3764G>A | ENST00000649781.2:p.Trp1255Ter |
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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1990-12-13 | no assertion criteria provided | cystic fibrosis |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.800 | cystic fibrosis | NA | CLINVAR | Detail | |
0.800 | cystic fibrosis | Severe deficiency of cystic fibrosis transmembrane conductance regulator messeng... | BeFree | 1721624 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_000492.4(CFTR):c.3947G>A (p.Trp1316Ter) AND Cystic fibrosis | ClinVar | Detail |
NA | DisGeNET | Detail |
Severe deficiency of cystic fibrosis transmembrane conductance regulator messenger RNA carrying nons... | 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
- rs121909010 dbSNP
- Genome
- hg38
- Position
- chr7:117,652,915-117,652,915
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- A
Genome browser