chr10:43609967:C>G Detail (hg19) (RET)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr10:43,609,967-43,609,967 |
hg38 | chr10:43,114,519-43,114,519 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_020630.4:c.1919C>G | NP_065681.1:p.Ala640Gly |
NM_020975.4:c.1919C>G | NP_066124.1:p.Ala640Gly | |
Ensemble | ENST00000713926.1:c.1751-96C>G |
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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1999-10-01 | no assertion criteria provided | multiple endocrine neoplasia type 2A |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.614 | multiple endocrine neoplasia type 2A | NA | CLINVAR | Detail | |
0.614 | multiple endocrine neoplasia type 2A | A novel case of multiple endocrine neoplasia type 2A associated with two de novo... | UNIPROT | 10522989 | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_020975.6(RET):c.1919C>G (p.Ala640Gly) AND Multiple endocrine neoplasia type 2A | ClinVar | Detail |
NA | DisGeNET | Detail |
A novel case of multiple endocrine neoplasia type 2A associated with two de novo mutations of the RE... | 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
- rs78935588 dbSNP
- Genome
- hg19
- Position
- chr10:43,609,967-43,609,967
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- G
Genome browser