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NM_194277.3(FRMD7):c.601C>T (p.Gln201Ter) AND Nystagmus 1, congenital, X-linked

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Nov 1, 2006
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:
RCV000011529.5

Allele description [Variation Report for NM_194277.3(FRMD7):c.601C>T (p.Gln201Ter)]

NM_194277.3(FRMD7):c.601C>T (p.Gln201Ter)

Gene:
FRMD7:FERM domain containing 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xq26.2
Genomic location:
Preferred name:
NM_194277.3(FRMD7):c.601C>T (p.Gln201Ter)
HGVS:
  • NC_000023.11:g.132085625G>A
  • NG_012347.1:g.47398C>T
  • NM_001306193.2:c.556C>T
  • NM_194277.3:c.601C>TMANE SELECT
  • NP_001293122.1:p.Gln186Ter
  • NP_919253.1:p.Gln201Ter
  • LRG_867:g.47398C>T
  • NC_000023.10:g.131219653G>A
Protein change:
Q186*; GLN201TER
Links:
OMIM: 300628.0001; dbSNP: rs137852207
NCBI 1000 Genomes Browser:
rs137852207
Molecular consequence:
  • NM_001306193.2:c.556C>T - nonsense - [Sequence Ontology: SO:0001587]
  • NM_194277.3:c.601C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:
Nystagmus 1, congenital, X-linked
Synonyms:
NYSTAGMUS 1, INFANTILE, X-LINKED; NYSTAGMUS, INFANTILE IDIOPATHIC; Infantile nystagmus, X-linked; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0010693; MedGen: C1839580; OMIM: 310700

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000031761OMIM
no assertion criteria provided
Pathogenic
(Nov 1, 2006) 		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 FRMD7, a newly identified member of the FERM family, cause X-linked idiopathic congenital nystagmus.

Tarpey P, Thomas S, Sarvananthan N, Mallya U, Lisgo S, Talbot CJ, Roberts EO, Awan M, Surendran M, McLean RJ, Reinecke RD, Langmann A, Lindner S, Koch M, Jain S, Woodruff G, Gale RP, Bastawrous A, Degg C, Droutsas K, Asproudis I, Zubcov AA, et al.

Nat Genet. 2006 Nov;38(11):1242-4. Epub 2006 Oct 1. Erratum in: Nat Genet. 2011 Jul;43(7):720. Bastawrous, Andrew [added].

PubMed [citation]
PMID:
17013395
PMCID:
PMC2592600

Details of each submission

From OMIM, SCV000031761.1

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

Description

In a family of Italian/German extraction with X-linked congenital nystagmus (310700), Tarpey et al. (2006) found a truncating mutation of the FRMD7 gene: 601C-T, gln201 to stop (Q201X). The predicted truncated protein contained 28% of the wildtype protein.

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

Last Updated: Apr 23, 2022