NM_001376.4(DYNC1H1):c.11050C>T (p.Pro3684Ser) AND Malignant melanoma

Clinical significance:not provided

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

not classified by submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000070427.2

Allele description [Variation Report for ]

Gene:
DYNC1H1:dynein, cytoplasmic 1, heavy chain 1 [Gene - OMIM]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.31
Genomic location:
Preferred name:
NM_001376.4(DYNC1H1):c.11050C>T (p.Pro3684Ser)
HGVS:
  • NC_000014.9:g.102038601C>T
  • NG_008777.1:g.79074C>T
  • NM_001376.4:c.11050C>T
  • NP_001367.2:p.Pro3684Ser
  • NC_000014.7:g.101574691C>T
  • NC_000014.8:g.102504938C>T
  • NM_001376.3:c.11050C>T
Protein change:
P3684S
Links:
dbSNP: 267603883
NCBI 1000 Genomes Browser:
rs267603883
Molecular consequence:
  • NM_001376.4:c.11050C>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 StatusClinical Significance
(Last evaluated)
OriginMethodConsequenceCitations
SCV000102017Samuels NHGRI/NIHclassified by single submitternot providedsomaticnot provided

Description

7T

SCV000102017

Summary from all submissions

EthnicityOriginAffectedAlleles observedFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedsomaticnot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Samuels NHGRI/NIH, SCV000102017.2

#EthnicityAlleles ObservedChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providednot providednot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodVariant allelesAllele frequencyFamiliesCo-occurrences
1somaticnot provided17Tnot providednot providednot providednot providednot provided

Last Updated: Feb 24, 2015

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