NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp) AND Short stature

Clinical significance:Likely pathogenic (Last evaluated: Nov 18, 2001)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000736199.1

Allele description [Variation Report for NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp)]

NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp)

Gene:
KCND1:potassium voltage-gated channel subfamily D member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.23
Genomic location:
Preferred name:
NM_004979.6(KCND1):c.1774C>T (p.Arg592Trp)
HGVS:
  • NC_000023.11:g.48962751G>A
  • NG_012515.2:g.14089C>T
  • NM_004979.6:c.1774C>TMANE SELECT
  • NP_004970.3:p.Arg592Trp
  • NC_000023.10:g.48820012G>A
  • NM_004979.4:c.1774C>T
Protein change:
R592W
Links:
dbSNP: rs1230432769
NCBI 1000 Genomes Browser:
rs1230432769
Molecular consequence:
  • NM_004979.6:c.1774C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Short stature
Synonyms:
Decreased body height; Height less than 3rd percentile; Small stature; See all synonyms [MedGen]
Identifiers:
MedGen: C0349588; Human Phenotype Ontology: HP:0004322

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000864496Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnbergno assertion criteria providedLikely pathogenic
(Nov 18, 2001)
maternalcase-control

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyesnot providednot providednot providednot providednot providedcase-control

Details of each submission

From Institute of Human Genetics, FAU Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, SCV000864496.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcase-controlnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Aug 11, 2021

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