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_005094.4(SLC27A4):c.1322dup (p.Gly442fs)

Help
Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jun 15, 2021)
Last evaluated:
Aug 17, 2021
Accession:
VCV001171022.3
Variation ID:
1171022
Description:
1bp duplication
Help

NM_005094.4(SLC27A4):c.1322dup (p.Gly442fs)

Allele ID
1161577
Variant type
Duplication
Variant length
1 bp
Cytogenetic location
9q34.11
Genomic location
9: 128353537-128353538 (GRCh38) GRCh38 UCSC
9: 131115816-131115817 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000009.11:g.131115818dup
NC_000009.12:g.128353539dup
NG_017057.1:g.17980dup
NM_005094.4:c.1322dup MANE Select NP_005085.2:p.Gly442fs frameshift
Protein change
G442fs
Other names
DUP, NT1322 (rs746178942)
Canonical SPDI
NC_000009.12:128353537:CC:CCC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
OMIM: 604194.0010
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 17, 2021 RCV001523896.3
Help
Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC27A4 - - GRCh38
GRCh37
54 96

Submitted interpretations and evidence

Help
Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Aug 17, 2021)
no assertion criteria provided
Method: literature only
ICHTHYOSIS PREMATURITY SYNDROME
Allele origin: germline
OMIM
Accession: SCV001733630.2
Submitted: (Jun 15, 2021)
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
Novel compound heterozygous FATP4 mutations caused ichthyosis prematurity syndrome in Spanish sisters. Esperón-Moldes US Acta paediatrica (Oslo, Norway : 1992) 2019 PMID: 30536735

Record last updated Sep 29, 2021