chr9:124500685:C>T Detail (hg38) (NR5A1)
Information
Genome
Assembly | Position |
---|---|
hg19 | chr9:127,262,964-127,262,964 View the variant detail on this assembly version. |
hg38 | chr9:124,500,685-124,500,685 |
HGVS
Type | Transcript | Protein |
---|---|---|
RefSeq | NM_004959.4:c.275G>A | NP_004950.2:p.Arg92Gln |
Ensemble | ENST00000373588.9:c.275G>A | ENST00000373588.9:p.Arg92Gln |
ENST00000620110.4:c.275G>A | ENST00000620110.4:p.Arg92Gln |
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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2002-04-01 | no assertion criteria provided | 46,XY sex reversal 3 |
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Detail |
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2002-04-01 | no assertion criteria provided | 46,XX sex reversal 4 |
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Detail |
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2002-04-01 | no assertion criteria provided | ADRENAL INSUFFICIENCY, NR5A1-RELATED |
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Detail |
CIViC
[No Data.]
DisGeNET
Score | Disease name | Description | Source | Pubmed | Links |
---|---|---|---|---|---|
0.005 | gonadal dysgenesis | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R2... | BeFree | 15472171 | Detail |
0.004 | adrenal cortical hypofunction | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R2... | BeFree | 15472171 | Detail |
0.128 | Adrenal gland hypofunction | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R2... | BeFree | 15472171 | Detail |
0.006 | Turner syndrome | Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R2... | BeFree | 15472171 | Detail |
0.246 | 46, XY Disorders of Sex Development | NA | CLINVAR | Detail |
Annotation
Annotations
Descrption | Source | Links |
---|---|---|
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) AND 46,XY sex reversal 3 | ClinVar | Detail |
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) AND 46,XX sex reversal 4 | ClinVar | Detail |
NM_004959.5(NR5A1):c.275G>A (p.Arg92Gln) AND ADRENAL INSUFFICIENCY, NR5A1-RELATED | ClinVar | Detail |
Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsibl... | DisGeNET | Detail |
Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsibl... | DisGeNET | Detail |
Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsibl... | DisGeNET | Detail |
Four human SF1 gene mutations have been described to date: three (G35E, R92Q, R255L) were responsibl... | DisGeNET | 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
- rs104894119 dbSNP
- Genome
- hg38
- Position
- chr9:124,500,685-124,500,685
- Variant Type
- snv
- Reference Allele
- C
- Alternative Allele
- T
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