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NM_182925.4(FLT4):c.3341C>T (p.Pro1114Leu)

Variation ID: Help
16262
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Jun 1, 2000
Number of submission(s):
1
Condition(s):
Hereditary lymphedema type I[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_182925.4(FLT4):c.3341C>T (p.Pro1114Leu)

Allele ID:
31301
Variant type:
single nucleotide variant
Cytogenetic location:
5q35.3
Genomic location:
  • Chr5: 180613101 (on Assembly GRCh38)
  • Chr5: 180040101 (on Assembly GRCh37)
Protein change:
P1114L
HGVS:
  • NG_011536.1:g.41524C>T
  • NM_182925.4:c.3341C>T
  • NP_891555.2:p.Pro1114Leu
  • NC_000005.10:g.180613101G>A (GRCh38)
  • NC_000005.9:g.180040101G>A (GRCh37)
  • P35916:p.Pro1114Leu
Links:
NCBI 1000 Genomes Browser:
rs121909652
Molecular consequence:
NM_182925.4:c.3341C>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
(Jun 1, 2000)
no assertion criteria providedliterature onlygermlineOMIMSCV000037927.4
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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