chr9:124503378:G> Detail (hg38) (NR5A1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:127,265,657-127,265,657 |
hg38 | chr9:124,503,378-124,503,378 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004959.4:c.18delC | NP_004950.2:p.Asp6GlufsTer69 |
Ensemble | ENST00000373588.9:c.18delC | ENST00000373588.9:p.Asp6GlufsTer69 |
ENST00000620110.4:c.18delC | ENST00000620110.4:p.Asp6GlufsTer69 |
Summary
MGeND
Clinical significance |
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Variant entry | 1 |
GWAS entry | |
Disease area statistics | Show details |
Disease area statistics
MGeND
Clinical significance | Last evaluated | Condition | Origin | Submission ID | Submitter | Institute | Citation | Comment | Image |
---|---|---|---|---|---|---|---|---|---|
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other |
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MGS000001
(TMGS000138) |
Kenjiro Kosaki | Keio University |
ClinVar
Clinical significance | Last evaluated | Review status | Condition | Origin | Links |
---|---|---|---|---|---|
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2004-12-01 | 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.18del (p.Asp6fs) 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
- rs606231205 dbSNP
- Genome
- hg38
- Position
- chr9:124,503,378-124,503,378
- Variant Type
- snv
- Reference Allele
- G
- Alternative Allele
- -
Genome browser