chr9:127265368:C>T Detail (hg19) (NR5A1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:127,265,368-127,265,368 |
hg38 | chr9:124,503,089-124,503,089 View the variant detail on this assembly version. |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004959.4:c.234G>A | NP_004950.2:p.Met78Ile |
Ensemble | ENST00000373588.9:c.234G>A | ENST00000373588.9:p.Met78Ile |
ENST00000620110.4:c.234G>A | ENST00000620110.4:p.Met78Ile |
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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2007-03-01 | no assertion criteria provided | 46,XY sex reversal 3 |
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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.234G>A (p.Met78Ile) 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
- rs104894125 dbSNP
- Genome
- hg19
- Position
- chr9:127,265,368-127,265,368
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
Genome browser