Skip to main page content
Accesskeys

ClinVar Genomic variation as it relates to human health

Advanced search

NM_173483.3(CYP4F22):c.177C>G (p.Phe59Leu)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Apr 26, 2018)
Last evaluated:
Apr 23, 2018
Accession:
VCV000560326.1
Variation ID:
560326
Description:
single nucleotide variant
Help

NM_173483.3(CYP4F22):c.177C>G (p.Phe59Leu)

Allele ID
551357
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.12
Genomic location
19: 15525513 (GRCh38) GRCh38 UCSC
19: 15636324 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.9:g.15636324C>G
NC_000019.10:g.15525513C>G
NM_173483.3:c.177C>G NP_775754.2:p.Phe59Leu missense
NG_007987.1:g.21989C>G
Protein change
F59L
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
Help

Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Apr 23, 2018 RCV000678420.1
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
(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: SCV000804491.1
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