NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr) AND not specified

Clinical significance:Benign (Last evaluated: Sep 27, 2013)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000081388.5

Allele description [Variation Report for NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr)]

NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr)

Gene:
MERTK:MER proto-oncogene, tyrosine kinase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q13
Genomic location:
Preferred name:
NM_006343.3(MERTK):c.2851G>A (p.Ala951Thr)
HGVS:
  • NC_000002.12:g.112028715G>A
  • NG_011607.1:g.135102G>A
  • NM_006343.3:c.2851G>AMANE SELECT
  • NP_006334.2:p.Ala951Thr
  • NP_006334.2:p.Ala951Thr
  • NC_000002.11:g.112786292G>A
  • NM_006343.2:c.2851G>A
Protein change:
A951T
Links:
dbSNP: rs148261231
NCBI 1000 Genomes Browser:
rs148261231
Molecular consequence:
  • NM_006343.3:c.2851G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV000113319Eurofins NTD, LLCcriteria provided, single submitter
Benign
(Sep 27, 2013)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From Eurofins NTD, LLC, SCV000113319.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Jan 15, 2022

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