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NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val) AND Congenital fibrosis of extraocular muscles type 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 2003
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:
RCV000002544.4

Allele description [Variation Report for NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)]

NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)

Gene:
KIF21A:kinesin family member 21A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q12
Genomic location:
Preferred name:
NM_001173464.2(KIF21A):c.2839A>G (p.Met947Val)
HGVS:
  • NC_000012.12:g.39332608T>C
  • NG_017067.1:g.115783A>G
  • NM_001173463.2:c.2800A>G
  • NM_001173464.2:c.2839A>GMANE SELECT
  • NM_001173465.2:c.2731A>G
  • NM_017641.4:c.2800A>G
  • NP_001166934.1:p.Met934Val
  • NP_001166935.1:p.Met947Val
  • NP_001166936.1:p.Met911Val
  • NP_060111.2:p.Met934Val
  • NC_000012.11:g.39726410T>C
  • Q7Z4S6:p.Met947Val
Protein change:
M911V; MET947VAL
Links:
UniProtKB: Q7Z4S6#VAR_019401; OMIM: 608283.0005; dbSNP: rs121912589
NCBI 1000 Genomes Browser:
rs121912589
Molecular consequence:
  • NM_001173463.2:c.2800A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173464.2:c.2839A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001173465.2:c.2731A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_017641.4:c.2800A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital fibrosis of extraocular muscles type 1
Synonyms:
BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS; OPHTHALMOPLEGIA, CONGENITAL; FEOM1 LOCUS
Identifiers:
MONDO: MONDO:0021083; MedGen: C1851102; OMIM: 135700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022702OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 2003) 		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

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1).

Yamada K, Andrews C, Chan WM, McKeown CA, Magli A, de Berardinis T, Loewenstein A, Lazar M, O'Keefe M, Letson R, London A, Ruttum M, Matsumoto N, Saito N, Morris L, Del Monte M, Johnson RH, Uyama E, Houtman WA, de Vries B, Carlow TJ, Hart BL, et al.

Nat Genet. 2003 Dec;35(4):318-21. Epub 2003 Nov 2.

PubMed [citation]
PMID:
14595441

Details of each submission

From OMIM, SCV000022702.3

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

Description

In a family with congenital fibrosis of extraocular muscles-1 (135700), Yamada et al. (2003) identified an A-to-G transition at nucleotide 2839 of the KIF21A gene, resulting in a met947-to-val (M947V) substitution.

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

Last Updated: Nov 11, 2023