NM_001159772.1(CANT1):c.676G>A (p.Val226Met) AND Desbuquois dysplasia 1

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Oct 12, 2017
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:: RCV000024010.5

Allele description

NM_001159772.1(CANT1):c.676G>A (p.Val226Met)

Gene:

CANT1:calcium activated nucleotidase 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

17q25.3

Genomic location:

Preferred name:

NM_001159772.1(CANT1):c.676G>A (p.Val226Met)

HGVS:

NC_000017.11:g.78995177C>T
NG_016645.1:g.19641G>A
NM_001159772.1:c.676G>A
NP_001153244.1:p.Val226Met
NC_000017.10:g.76991259C>T
Q8WVQ1:p.Val226Met

Protein change:

V226M; VAL226MET

Links:

UniProtKB: Q8WVQ1#VAR_068659; OMIM: 613165.0013; dbSNP: rs377546036

NCBI 1000 Genomes Browser:

rs377546036

Allele Frequency:

0.00005(T), GO-ESP

Molecular consequence:

NM_001159772.1:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Desbuquois dysplasia 1 (DBQD1)
Synonyms:: MICROMELIC DWARFISM WITH VERTEBRAL AND METAPHYSEAL ABNORMALITIES AND ADVANCED CARPOTARSAL OSSIFICATION; DESBUQUOIS DYSPLASIA 1, KIM VARIANT
Identifiers:: MedGen: C4012146; Orphanet: 1425; OMIM: 251450

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000045301	OMIM	no assertion criteria provided	Pathogenic (Oct 12, 2017)	not provided	literature only

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000045301

OMIM

no assertion criteria provided

Pathogenic
(Oct 12, 2017)

not provided

literature only

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	not provided	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From OMIM, SCV000045301.6

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	not provided	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jul 21, 2018

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