NM_001177316.1(SLC34A3):c.218T>C (p.Val73Ala) AND not provided

Clinical significance:Uncertain significance

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:
RCV000054686.1

Allele description [Variation Report for NM_001177316.1(SLC34A3):c.218T>C (p.Val73Ala)]

NM_001177316.1(SLC34A3):c.218T>C (p.Val73Ala)

Gene:
SLC34A3:solute carrier family 34 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.3
Genomic location:
Preferred name:
NM_001177316.1(SLC34A3):c.218T>C (p.Val73Ala)
HGVS:
  • NC_000009.12:g.137232617T>C
  • NG_017008.1:g.6861T>C
  • NM_001177316.1:c.218T>C
  • NM_001177317.1:c.218T>C
  • NP_001170787.1:p.Val73Ala
  • NP_001170788.1:p.Val73Ala
  • NC_000009.11:g.140127069T>C
Protein change:
V73A
Links:
dbSNP: 387907511
NCBI 1000 Genomes Browser:
rs387907511
Molecular consequence:
  • NM_001177317.1:c.218T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN221809

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000077376Martin Pollak Laboratory, Beth Israel Deaconess Medical Centerno assertion criteria providedunknownnot providednot provided

Description

Lower UCa2+ group

SCV000077376

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Martin Pollak Laboratory, Beth Israel Deaconess Medical Center, SCV000077376.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided

Description

Converted during submission to variant of unknown significance.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot provided1not providednot providednot providednot providednot providednot provided

Last Updated: Jul 15, 2017