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NM_173483.3(CYP4F22):c.1306C>G (p.His436Asp)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Apr 26, 2018)
Last evaluated:
Apr 23, 2018
Accession:
VCV000000910.1
Variation ID:
910
Description:
single nucleotide variant
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NM_173483.3(CYP4F22):c.1306C>G (p.His436Asp)

Allele ID
15949
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
19p13.12
Genomic location
19: 15549173 (GRCh38) GRCh38 UCSC
19: 15659984 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000019.10:g.15549173C>G
NC_000019.9:g.15659984C>G
NM_173483.3:c.1306C>G NP_775754.2:p.His436Asp missense
... more HGVS
Protein change
H436D
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
UniProtKB: Q6NT55#VAR_037445
OMIM: 611495.0002
dbSNP: rs118203936
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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 RCV000000958.2
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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

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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: SCV000021108.1
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: SCV000804498.1
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