chr1:156861141:TG> Detail (hg38) (NTRK1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr1:156,830,933-156,830,934 |
hg38 | chr1:156,861,141-156,861,142 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_001012331.1:c.207_208delTG | NP_001012331.1:p.Glu70AlafsTer16 |
NM_001007792.1:c.51-3213_51-3212delTG | ||
NM_002529.3:c.207_208delTG | NP_002520.2:p.Glu70AlafsTer16 |
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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2023-03-27 | criteria provided, single submitter | Hereditary insensitivity to pain with anhidrosis |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.450 | HSAN Type IV | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_002529.4(NTRK1):c.207_208del (p.Glu70fs) AND Hereditary insensitivity to pain with anhidrosis | 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
- rs398122810 dbSNP
- Genome
- hg38
- Position
- chr1:156,861,141-156,861,142
- Variant Type
- snv
- Reference Allele
- TG
- Alternative Allele
- -
Genome browser