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NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del) AND Oculocutaneous albinism type 4

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 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:
RCV000004759.4

Allele description [Variation Report for NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del)]

NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del)

Gene:
SLC45A2:solute carrier family 45 member 2 [Gene - OMIM - HGNC]
Variant type:
Microsatellite
Cytogenetic location:
5p13.2
Genomic location:
Preferred name:
NM_016180.5(SLC45A2):c.656TCT[2] (p.Phe221del)
HGVS:
  • NC_000005.10:g.33963916GAA[2]
  • NG_011691.2:g.25753TCT[2]
  • NM_001012509.4:c.656TCT[2]
  • NM_001297417.4:c.563-9419TCT[2]
  • NM_016180.3:c.662_664del
  • NM_016180.5:c.656TCT[2]MANE SELECT
  • NP_001012527.2:p.Phe221del
  • NP_057264.4:p.Phe221del
  • NC_000005.9:g.33964020_33964022del
  • NC_000005.9:g.33964021GAA[2]
  • NG_011691.1:g.25758_25760del
  • NM_016180.3:c.661_663del
Protein change:
F221del
Links:
OMIM: 606202.0004; dbSNP: rs387906318
NCBI 1000 Genomes Browser:
rs387906318
Molecular consequence:
  • NM_001012509.4:c.656TCT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_016180.5:c.656TCT[2] - inframe_deletion - [Sequence Ontology: SO:0001822]
  • NM_001297417.4:c.563-9419TCT[2] - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Name:
Oculocutaneous albinism type 4 (OCA4)
Synonyms:
Albinism, oculocutaneous, type IV
Identifiers:
MONDO: MONDO:0011683; MedGen: C1847836; Orphanet: 79435; OMIM: 606574

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000024935OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 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 the MATP gene in five German patients affected by oculocutaneous albinism type 4.

Rundshagen U, Zühlke C, Opitz S, Schwinger E, Käsmann-Kellner B.

Hum Mutat. 2004 Feb;23(2):106-110. doi: 10.1002/humu.10311.

PubMed [citation]
PMID:
14722913

Details of each submission

From OMIM, SCV000024935.2

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

Description

For discussion of the 3-bp deletion (361_363del) in the MATP gene that was found in compound heterozygous state in a patient with oculocutaneous albinism type IV (OCA4; 606574) by Rundshagen et al. (2004), see 606202.0003.

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

Last Updated: Sep 29, 2024