chr9:124503218:GC>TT Detail (hg38) (NR5A1)

Information

Genome

Assembly Position
hg19 chr9:127,265,497-127,265,498 View the variant detail on this assembly version.
hg38 chr9:124,503,218-124,503,219

HGVS

Type Transcript Protein
RefSeq NM_004959.4:c.104_105delinsAA NP_004950.2:p.Gly35Glu
Ensemble ENST00000373588.9:c.104_105delinsAA ENST00000373588.9:p.Gly35Glu
ENST00000620110.4:c.104_105delinsAA ENST00000620110.4:p.Gly35Glu
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 184757 OMIM
HGNC 7983 HGNC
Ensembl ENSG00000136931 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar
COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 2003-10-24 no assertion criteria provided 46,XY sex reversal 3 germline Detail
CIViC
[No Data.]
DisGeNET
Score Disease name Description Source Pubmed Links
0.128 Adrenal gland hypofunction Not long ago, a mutation (G35E) in the human SF-1 gene was identified as the cau... BeFree 12907682 Detail
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

DescrptionSourceLinks
NM_004959.5(NR5A1):c.104_105delinsAA (p.Gly35Glu) AND 46,XY sex reversal 3 ClinVar Detail
Not long ago, a mutation (G35E) in the human SF-1 gene was identified as the cause of sex reversal a... 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
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
rs121918654 dbSNP
Genome
hg38
Position
chr9:124,503,218-124,503,219
Variant Type
snv
Reference Allele
GC
Alternative Allele
TT
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