NM_153676.4(USH1C):c.701C>T (p.Pro234Leu) AND not specified

Clinical significance:Uncertain significance (Last evaluated: Jan 16, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000506416.1

Allele description [Variation Report for NM_153676.4(USH1C):c.701C>T (p.Pro234Leu)]

NM_153676.4(USH1C):c.701C>T (p.Pro234Leu)

Gene:
USH1C:USH1 protein network component harmonin [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11p15.1
Genomic location:
Preferred name:
NM_153676.4(USH1C):c.701C>T (p.Pro234Leu)
HGVS:
  • NC_000011.10:g.17524509G>A
  • NG_011883.1:g.24908C>T
  • NG_011883.2:g.24908C>T
  • NM_001297764.2:c.701C>T
  • NM_005709.4:c.701C>T
  • NM_153676.4:c.701C>TMANE SELECT
  • NP_001284693.1:p.Pro234Leu
  • NP_005700.2:p.Pro234Leu
  • NP_710142.1:p.Pro234Leu
  • NC_000011.9:g.17546056G>A
  • NR_123738.2:n.810C>T
Protein change:
P234L
Links:
dbSNP: rs1554961433
NCBI 1000 Genomes Browser:
rs1554961433
Molecular consequence:
  • NM_001297764.2:c.701C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005709.4:c.701C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_153676.4:c.701C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_123738.2:n.810C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000605533ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratoriescriteria provided, single submitter
Uncertain significance
(Jan 16, 2017)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories, SCV000605533.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Nov 27, 2020

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