NM_004463.3(FGD1):c.676G>A (p.Ala226Thr) AND not specified

Clinical significance:Benign (Last evaluated: Feb 11, 2014)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000081099.4

Allele description [Variation Report for NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)]

NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)

Gene:
FGD1:FYVE, RhoGEF and PH domain containing 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp11.22
Genomic location:
Preferred name:
NM_004463.3(FGD1):c.676G>A (p.Ala226Thr)
HGVS:
  • NC_000023.11:g.54470441C>T
  • NG_008054.1:g.30726G>A
  • NM_004463.3:c.676G>AMANE SELECT
  • NP_004454.2:p.Ala226Thr
  • NC_000023.10:g.54496874C>T
  • NM_004463.2:c.676G>A
Protein change:
A226T
Links:
dbSNP: rs138723423
NCBI 1000 Genomes Browser:
rs138723423
Molecular consequence:
  • NM_004463.3:c.676G>A - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000113007EGL Genetic Diagnostics, Eurofins Clinical Diagnosticscriteria provided, single submitter
Benign
(Feb 11, 2014)
germlineclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknown1not providednot providednot providednot providedclinical testing

Details of each submission

From EGL Genetic Diagnostics, Eurofins Clinical Diagnostics, SCV000113007.8

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 27, 2021

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