NM_001354689.3(RAF1):c.524A>G (p.His175Arg) AND not provided

Clinical significance:Pathogenic (Last evaluated: Jan 12, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000788414.1

Allele description [Variation Report for NM_001354689.3(RAF1):c.524A>G (p.His175Arg)]

NM_001354689.3(RAF1):c.524A>G (p.His175Arg)

Gene:
RAF1:Raf-1 proto-oncogene, serine/threonine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p25.2
Genomic location:
Preferred name:
NM_001354689.3(RAF1):c.524A>G (p.His175Arg)
HGVS:
  • NC_000003.12:g.12608823T>C
  • NG_007467.1:g.60357A>G
  • NM_001354689.3:c.524A>GMANE SELECT
  • NM_001354690.2:c.524A>G
  • NM_001354691.2:c.281A>G
  • NM_001354692.2:c.281A>G
  • NM_001354693.2:c.524A>G
  • NM_001354694.2:c.281A>G
  • NM_001354695.2:c.281A>G
  • NM_002880.3:c.524A>G
  • NP_001341618.1:p.His175Arg
  • NP_001341619.1:p.His175Arg
  • NP_001341620.1:p.His94Arg
  • NP_001341621.1:p.His94Arg
  • NP_001341622.1:p.His175Arg
  • NP_001341623.1:p.His94Arg
  • NP_001341624.1:p.His94Arg
  • NP_002871.1:p.His175Arg
  • LRG_413t1:c.524A>G
  • LRG_413t2:c.524A>G
  • LRG_413:g.60357A>G
  • LRG_413p1:p.His175Arg
  • LRG_413p2:p.His175Arg
  • NC_000003.11:g.12650322T>C
  • NR_148940.2:n.855A>G
  • NR_148941.2:n.855A>G
  • NR_148942.2:n.855A>G
  • c.524A>G
Protein change:
H175R
Links:
dbSNP: rs397516822
NCBI 1000 Genomes Browser:
rs397516822
Molecular consequence:
  • NM_001354689.3:c.524A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354690.2:c.524A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354691.2:c.281A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354692.2:c.281A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354693.2:c.524A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354694.2:c.281A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001354695.2:c.281A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002880.3:c.524A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NR_148940.2:n.855A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148941.2:n.855A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_148942.2:n.855A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000927514Blueprint Geneticscriteria provided, single submitter
Pathogenic
(Jan 12, 2018)
germlineclinical testing

Citation Link

Description

Patient analyzed with Hypertrophic Cardiomyopathy (HCM) Panel

SCV000927514

Summary from all submissions

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

Details of each submission

From Blueprint Genetics, SCV000927514.1

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

Last Updated: Oct 16, 2021

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