U.S. flag

An official website of the United States government

NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) AND Autosomal recessive osteopetrosis 4

Germline classification:
not provided (1 submission)
Review status:
no classification 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:
RCV000055845.3

Allele description [Variation Report for NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)]

NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)

Gene:
CLCN7:chloride voltage-gated channel 7 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
16p13.3
Genomic location:
Preferred name:
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met)
HGVS:
  • NC_000016.10:g.1452856C>T
  • NG_007567.1:g.27229G>A
  • NM_001114331.3:c.1180G>A
  • NM_001287.6:c.1252G>AMANE SELECT
  • NP_001107803.1:p.Val394Met
  • NP_001278.1:p.Val418Met
  • NC_000016.9:g.1502857C>T
  • NM_001287.5:c.1252G>A
  • P51798:p.Val418Met
Protein change:
V394M
Links:
UniProtKB: P51798#VAR_021002; dbSNP: rs12926089
NCBI 1000 Genomes Browser:
rs12926089
Molecular consequence:
  • NM_001114331.3:c.1180G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001287.6:c.1252G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Autosomal recessive osteopetrosis 4
Synonyms:
Osteopetrosis infantile malignant 2; infantile malignant CLCN7-related recessive osteopetrosis
Identifiers:
MONDO: MONDO:0012676; MedGen: C1969106; Orphanet: 667; OMIM: 611490

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
SCV000086841GeneReviews
no classification provided
not providedunknownliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Polymorphisms of the CLCN7 gene are associated with BMD in women.

Pettersson U, Albagha OM, Mirolo M, Taranta A, Frattini A, McGuigan FE, Vezzoni P, Teti A, van Hul W, Reid DM, Villa A, Ralston SH.

J Bone Miner Res. 2005 Nov;20(11):1960-7. Epub 2005 Jul 18.

PubMed [citation]
PMID:
16234969

CLCN7-Related Osteopetrosis.

Sobacchi C, Villa A, Schulz A, Kornak U.

2007 Feb 12 [updated 2022 Jan 20]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews(®) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2024.

PubMed [citation]
PMID:
20301306

Details of each submission

From GeneReviews, SCV000086841.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownnot providednot providednot providedAssert pathogenicitynot providednot providednot providednot provided

Last Updated: Sep 29, 2024