chr9:127245113:A>T Detail (hg19) (NR5A1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:127,245,113-127,245,113 |
hg38 | chr9:124,482,834-124,482,834 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004959.4:c.1310T>A | NP_004950.2:p.Leu437Gln |
Ensemble | ENST00000373588.9:c.1310T>A | ENST00000373588.9:p.Leu437Gln |
ENST00000620110.4:c.1190T>A | ENST00000620110.4:p.Leu397Gln |
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 |
---|---|---|---|---|---|
![]() |
2007-03-01 | no assertion criteria provided | 46,XY sex reversal 3 |
![]() |
Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.246 | 46, XY Disorders of Sex Development | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004959.5(NR5A1):c.1310T>A (p.Leu437Gln) AND 46,XY sex reversal 3 | 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
- rs104894120 dbSNP
- Genome
- hg19
- Position
- chr9:127,245,113-127,245,113
- Variant Type
- snv
- Reference Allele
- A
- Alternative Allele
- T
Genome browser