NM_000660.5(TGFB1):c.29C>T (p.Pro10Leu)

NM_000660.5(TGFB1):c.29C>T (p.Pro10Leu)

Variant type:
single nucleotide variant
Cytogenetic location:
19q13.2
Genomic location:
  • Chr19:41353016 (on Assembly GRCh38)
  • Chr19:41858921 (on Assembly GRCh37)
Protein change:
L10P, P10L
HGVS:
  • NG_013364.1:g.5911C>T
  • NM_000660.5:c.29C>T
  • NC_000019.10:g.41353016G>A (GRCh38)
  • NP_000651.3:p.Pro10Leu
  • NC_000019.9:g.41858921G>A (GRCh37)
  • NM_000660.4:c.29C>T
  • NP_000651.3:p.Leu10Pro
Links:
NCBI 1000 Genomes Browser:
rs1800470
Molecular consequence:
NM_000660.4:c.29C>T: missense variant [Sequence Ontology SO:0001583]
Allele frequency:
GMAF 0.45470 (G)

Clinical significance

NM_000660.5(TGFB1):c.29C>T (p.Pro10Leu)

Clinical significance:
risk factor
Review status:
1 star out of maximum of 4 stars
classified by single submitter
Number of submission(s):
2
Condition(s)
See supporting ClinVar records

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Recent activity

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study name
(Last submitted)
Submission accession
risk factor
(Nov 19, 2014)
classified by single submitterliterature onlygermlinePubMed (4)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000033607
risk factor
(Nov 19, 2014)
classified by single submitterliterature only
  • Breast cancer, invasive, susceptibility to
germlinePubMed (4)
[See all records that cite these PMIDs]
OMIM

(Dec 30, 2010)

SCV000033608
SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
OMIMnot providednot providedgermlinenot providednot providedPubMednot provided
SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription
OMIMgermlinenot providedBreast cancer, invasive, susceptibility to (not provided)not providednot providedPubMedDrumm et al. (2005) found that patients with cystic fibrosis (CF; 219700) and homozygosity for the common phe508del mutation (602421.0001) had an incr…Full description
OMIMgermlinenot providedCystic fibrosis (not provided)not providednot providedPubMedDrumm et al. (2005) found that patients with cystic fibrosis (CF; 219700) and homozygosity for the common phe508del mutation (602421.0001) had an incr…Full description

Last Updated: Jun 10, 2015