NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp) AND Inborn genetic diseases

Clinical significance:Pathogenic (Last evaluated: Apr 2, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000624254.1

Allele description [Variation Report for NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)]

NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)

Gene:
ZSWIM6:zinc finger SWIM-type containing 6 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q12.1
Genomic location:
Preferred name:
NM_020928.2(ZSWIM6):c.3487C>T (p.Arg1163Trp)
HGVS:
  • NC_000005.10:g.61544156C>T
  • NG_053150.1:g.216884C>T
  • NM_020928.2:c.3487C>TMANE SELECT
  • NP_065979.1:p.Arg1163Trp
  • NC_000005.9:g.60839983C>T
  • NM_020928.1:c.3487C>T
  • Q9HCJ5:p.Arg1163Trp
Protein change:
R1163W; ARG1163TRP
Links:
UniProtKB: Q9HCJ5#VAR_071802; OMIM: 615951.0001; dbSNP: rs587777695
NCBI 1000 Genomes Browser:
rs587777695
Molecular consequence:
  • NM_020928.2:c.3487C>T - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Name:
Inborn genetic diseases
Identifiers:
MeSH: D030342; MedGen: C0950123

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000742103Ambry Geneticscriteria provided, single submitter
Pathogenic
(Apr 2, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Hispanicgermlineyes1not providednot provided1not providedclinical testing

Details of each submission

From Ambry Genetics, SCV000742103.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Hispanic1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyes1not providednot provided1not providednot providednot provided

Last Updated: Oct 8, 2021

Support Center