U.S. flag

An official website of the United States government

A114N AND Autosomal recessive congenital ichthyosis 6

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Oct 15, 2004
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000001800.2

Allele description [Variation Report for A114N]

A114N

Gene:
NIPAL4:NIPA like domain containing 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q33
Preferred name:
A114N
Other names:
A114N
HGVS:
    Note:
    NCBI staff could not confirm the published amino acid change on a current reference sequence after review of PubMed 15317751.
    Protein change:
    ALA114ASN
    Links:
    OMIM: 609383.0002

    Condition(s)

    Name:
    Autosomal recessive congenital ichthyosis 6 (ARCI6)
    Identifiers:
    MONDO: MONDO:0012847; MedGen: C2677065; Orphanet: 313; Orphanet: 79394; OMIM: 612281

    Recent activity

    Clear Turn Off Turn On

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...

    Assertion and evidence details

    Help
    Submission AccessionSubmitterReview Status
    (Assertion method)    		Clinical Significance
    (Last evaluated)    		OriginMethodCitations
    SCV000021956OMIM
    no assertion criteria provided
    		Pathogenic
    (Oct 15, 2004)     		germlineliterature only

    PubMed (1)
    [See all records that cite this PMID]

    Help

    Summary from all submissions

    EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
    not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

    Citations

    PubMed

    Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis.

    Lefèvre C, Bouadjar B, Karaduman A, Jobard F, Saker S, Ozguc M, Lathrop M, Prud'homme JF, Fischer J.

    Hum Mol Genet. 2004 Oct 15;13(20):2473-82. Epub 2004 Aug 18.

    PubMed [citation]
    PMID:
    15317751

    Details of each submission

    From OMIM, SCV000021956.1

    #EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
    1not providednot providednot providednot providedliterature only PubMed (1)

    Description

    In affected members of 7 consanguineous families with autosomal recessive congenital ichthyosis-6 (612281), Lefevre et al. (2004) identified a homozygous 341C-A transversion in exon 4 of the NIPAL4 gene, resulting in an ala114-to-asn (A114N) substitution. One of the families was from Colombia, 3 were from Turkey, and 3 were from Algeria.

    #SampleMethodObservation
    OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
    1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

    Last Updated: Mar 26, 2023