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NM_000321.2(RB1):c.1700C>T (p.Ser567Leu)

Variation ID: Help
13072
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Dec 21, 1989
Number of submission(s):
1
Condition(s):
Retinoblastoma[MeSH - MedGen - Orphanet - OMIM - Human Phenotype Ontology]
See supporting ClinVar records

Allele(s) Help

NM_000321.2(RB1):c.1700C>T (p.Ser567Leu)

Allele ID:
28111
Variant type:
single nucleotide variant
Cytogenetic location:
13q14.2
Genomic location:
  • Chr13: 48452997 (on Assembly GRCh38)
  • Chr13: 49027133 (on Assembly GRCh37)
Protein change:
S567L
HGVS:
  • NG_009009.1:g.154251C>T
  • NM_000321.2:c.1700C>T
  • NP_000312.2:p.Ser567Leu
  • NC_000013.11:g.48452997C>T (GRCh38)
  • LRG_517t1:c.1700C>T
  • NC_000013.10:g.49027133C>T (GRCh37)
  • P06400:p.Ser567Leu
  • LRG_517p1:p.Ser567Leu
  • LRG_517:g.154251C>T
Links:
NCBI 1000 Genomes Browser:
rs137853292
Molecular consequence:
NM_000321.2:c.1700C>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

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Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Dec 21, 1989)
no assertion criteria providedliterature onlygermlineOMIMSCV000034194.1
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

Last Updated: Mar 31, 2019

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