• delete

NM_001178007.1(BBS12):c.82A>T (p.Thr28Ser) AND Malignant melanoma

Clinical significance:not provided

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000074320.2

Allele description

NM_001178007.1(BBS12):c.82A>T (p.Thr28Ser)

Gene:
BBS12:Bardet-Biedl syndrome 12 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
4q27
Genomic location:
Preferred name:
NM_001178007.1(BBS12):c.82A>T (p.Thr28Ser)
HGVS:
  • NC_000004.12:g.122741974A>T
  • NG_021203.1:g.14273A>T
  • NM_001178007.1:c.82A>T
  • NM_152618.2:c.82A>T
  • NP_001171478.1:p.Thr28Ser
  • NP_689831.2:p.Thr28Ser
  • NC_000004.10:g.123882579A>T
  • NC_000004.11:g.123663129A>T
Protein change:
T28S
Links:
dbSNP: 267600007
NCBI 1000 Genomes Browser:
rs267600007
Molecular consequence:
  • NM_001178007.1:c.82A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Malignant melanoma
Synonyms:
Melanoma; Malignant melanoma, somatic
Identifiers:
MedGen: C0025202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000097844Samuels Laboratory; NHGRI/NIHno assertion providednot providedsomaticnot provided

Description

108T

SCV000097844

Summary from all submissions

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

Details of each submission

From Samuels Laboratory; NHGRI/NIH, SCV000097844.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1somaticnot provided1108Tnot providednot providednot providednot providednot provided

Last Updated: Jun 26, 2015