Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

ClinVar Genomic variation as it relates to human health

Advanced search

NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 6, 2011)
Last evaluated:
Aug 12, 2011
Accession:
VCV000030065.1
Variation ID:
30065
Description:
single nucleotide variant
Help

NM_001393392.1(AKR1C2):c.270T>G (p.His90Gln)

Allele ID
39020
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
10p15.1
Genomic location
10: 5000649 (GRCh38) GRCh38 UCSC
10: 5042841 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
P52895:p.His90Gln
NC_000010.11:g.5000649A>C
NC_000010.10:g.5042841A>C
... more HGVS
Protein change
H90Q
Other names
-
Canonical SPDI
NC_000010.11:5000648:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA213017
UniProtKB: P52895#VAR_066633
OMIM: 600450.0002
dbSNP: rs797044460
VarSome
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Aug 12, 2011 RCV000022968.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
AKR1C2 - - GRCh38
GRCh37
60 102

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 12, 2011)
no assertion criteria provided
Method: literature only
46,XY SEX REVERSAL 8
Allele origin: germline
OMIM
Accession: SCV000044259.2
Submitted: (Oct 06, 2011)
Evidence details
Publications
PubMed (1)

Functional evidence

Help
There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

Help
Title Author Journal Year Link
Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation. Fl├╝ck CE American journal of human genetics 2011 PMID: 21802064

Text-mined citations for rs797044460...

Help
These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Dec 04, 2021