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NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp) AND not provided

Germline classification:
not provided (1 submission)
Review status:
no classification provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000056902.9

Allele description [Variation Report for NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp)]

NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp)

Gene:
GFAP:glial fibrillary acidic protein [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_002055.5(GFAP):c.724T>G (p.Tyr242Asp)
HGVS:
  • NC_000017.11:g.44913325A>C
  • NG_008401.1:g.7222T>G
  • NM_001131019.3:c.724T>G
  • NM_001242376.3:c.724T>G
  • NM_001363846.2:c.724T>G
  • NM_002055.5:c.724T>GMANE SELECT
  • NP_001124491.1:p.Tyr242Asp
  • NP_001229305.1:p.Tyr242Asp
  • NP_001350775.1:p.Tyr242Asp
  • NP_002046.1:p.Tyr242Asp
  • NC_000017.10:g.42990693A>C
  • NM_002055.4:c.724T>G
  • P14136:p.Tyr242Asp
Protein change:
Y242D
Links:
UniProtKB: P14136#VAR_071547; dbSNP: rs60551555
NCBI 1000 Genomes Browser:
rs60551555
Molecular consequence:
  • NM_001131019.3:c.724T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.724T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.724T>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.724T>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000088015Epithelial Biology; Institute of Medical Biology, Singapore
no classification provided
not providednot providednot provided

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providednot providednot providednot providednot providednot provided1not providedliterature only

Details of each submission

From Epithelial Biology; Institute of Medical Biology, Singapore, SCV000088015.1

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

Last Updated: Nov 10, 2024