NM_000141.4(FGFR2):c.756_758delGCCinsCTT (p.Pro253Phe)

Variation ID: Help
55867
Review status: Help
(0/4) no assertion criteria provided0 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Number of submission(s):
1
Condition(s):
Acrocephalosyndactyly type I[MedGen - Orphanet - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_000141.4(FGFR2):c.756_758delGCCinsCTT (p.Pro253Phe)

Allele ID:
70518
Variant type:
Indel
Cytogenetic location:
10q26.1
Genomic location:
  • Chr10: 121520160 - 121520162 (on Assembly GRCh38)
  • Chr10: 123279674 - 123279676 (on Assembly GRCh37)
HGVS:
  • NG_012449.2:g.83297_83299delGCCinsCTT
  • NM_000141.4:c.756_758delGCCinsCTT
  • NM_001144914.1:c.749-4843_749-4841delinsCTT
  • NM_022970.3:c.756_758delGCCinsCTT
  • NP_000132.3:p.Pro253Phe
  • NP_075259.4:p.Pro253Phe
  • NC_000010.11:g.121520160_121520162delGGCinsAAG (GRCh38)
  • NR_073009.1:n.1058_1060delGCCinsCTT
  • NC_000010.10:g.123279674_123279676delGGCinsAAG (GRCh37)
  • NC_000010.10:g.123279674_123279676delinsAAG (GRCh37)
Links:
dbSNP: 387907372
NCBI 1000 Genomes Browser:
rs387907372
Molecular consequence:
  • NM_000141.4:c.756_758delGCCinsCTT: missense variant SO:0001583
  • NM_001144914.1:c.749-4843_749-4841delinsCTT: intron variant SO:0001627
  • NR_073009.1:n.1058_1060delGCCinsCTT: non-coding transcript variant SO:0001619

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
Pathogenicno assertion criteria providedliterature onlymaternal
    Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of LeuvenSCV000077539.1
    SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
    Laboratory for Genetics of Human Development Center for Human Genetics, Catholic University of Leuvennot providednot providedmaternalnot providednot providednot providedConverted during submission to…Full description
    SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

    Last Updated: Sep 6, 2017