Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_173483.3(CYP4F22):c.728G>A (p.Arg243His)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Apr 26, 2018)
Last evaluated:
Apr 23, 2018
Accession:
VCV000000911.1
Variation ID:
911
Description:
single nucleotide variant
Help

NM_173483.3(CYP4F22):c.728G>A (p.Arg243His)

Allele ID
15950
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.12
Genomic location
19: 15540506 (GRCh38) GRCh38 UCSC
19: 15651317 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.15651317G>A
NC_000019.10:g.15540506G>A
NM_173483.3:c.728G>A NP_775754.2:p.Arg243His missense
... more HGVS
Protein change
R243H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
0.00020 (A)

Allele frequency
1000 Genomes Project 0.00020
Trans-Omics for Precision Medicine (TOPMed) 0.00002
The Genome Aggregation Database (gnomAD) 0.00003
The Genome Aggregation Database (gnomAD), exomes 0.00004
Exome Aggregation Consortium (ExAC) 0.00004
Links
UniProtKB: Q6NT55#VAR_037442
OMIM: 611495.0003
dbSNP: rs118203937
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 2 no assertion criteria provided Apr 23, 2018 RCV000000959.2
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
CYP4F22 - - GRCh38
GRCh37
98 110

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Mar 01, 2006)
no assertion criteria provided
Method: literature only
ICHTHYOSIS, CONGENITAL, AUTOSOMAL RECESSIVE 5
Allele origin: germline
OMIM
Accession: SCV000021109.1
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)
Pathogenic
(Apr 23, 2018)
no assertion criteria provided
Method: clinical testing
Autosomal recessive congenital ichthyosis 5
Allele origin: germline
Institute for Human Genetics,University Clinic Freiburg
Accession: SCV000804493.1
Submitted: (Apr 26, 2018)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Lefèvre C Human molecular genetics 2006 PMID: 16436457

Record last updated Jun 20, 2019