NM_053056.2(CCND1):c.723G>A (p.Pro241=) AND VON HIPPEL-LINDAU SYNDROME, MODIFIER OF

Clinical significance:risk factor (Last evaluated: Mar 3, 2017)

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

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000087019.5

Allele description [Variation Report for NM_053056.2(CCND1):c.723G>A (p.Pro241=)]

NM_053056.2(CCND1):c.723G>A (p.Pro241=)

Gene:
CCND1:cyclin D1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
11q13.3
Genomic location:
Preferred name:
NM_053056.2(CCND1):c.723G>A (p.Pro241=)
HGVS:
  • NC_000011.10:g.69648142G>A
  • NG_007375.1:g.12038G>A
  • NM_053056.2:c.723G>A
  • NP_444284.1:p.Pro241=
  • NC_000011.9:g.69462910G>A
Links:
OMIM: 168461.0001; dbSNP: 9344
GMAF:
0.4135(A), 9344
NCBI 1000 Genomes Browser:
rs9344
Allele Frequency:
0.3867, GO-ESP
Molecular consequence:
  • NM_053056.2:c.723G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
VON HIPPEL-LINDAU SYNDROME, MODIFIER OF
Identifiers:

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000119833OMIMno assertion criteria providedrisk factor
(Mar 3, 2017)
not providedliterature only

Summary from all submissions

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

Details of each submission

From OMIM, SCV000119833.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature onlynot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1not providednot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: May 7, 2017