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NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe) 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:
RCV000056874.1

Allele description [Variation Report for NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe)]

NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe)

Gene:
GFAP:glial fibrillary acidic protein [Gene - OMIM - HGNC]
Variant type:
Indel
Cytogenetic location:
17q21.31
Genomic location:
Preferred name:
NM_002055.5(GFAP):c.256_259delinsGAGT (p.Lys86_Val87delinsGluPhe)
HGVS:
  • NC_000017.11:g.44915228_44915231delinsACTC
  • NG_008401.1:g.5316_5319delinsGAGT
  • NM_001131019.3:c.256_259delinsGAGT
  • NM_001242376.3:c.256_259delinsGAGT
  • NM_001363846.2:c.256_259delinsGAGT
  • NM_002055.5:c.256_259delinsGAGTMANE SELECT
  • NP_001124491.1:p.Lys86_Val87delinsGluPhe
  • NP_001229305.1:p.Lys86_Val87delinsGluPhe
  • NP_001350775.1:p.Lys86_Val87delinsGluPhe
  • NP_002046.1:p.Lys86_Val87delinsGluPhe
  • NC_000017.10:g.42992596_42992599delinsACTC
  • NM_002055.4:c.256_259delAAGGinsGAGT
  • NP_002046.1:p.Lys86_Val87delinsGluGluPhe
Links:
dbSNP: rs267607501
NCBI 1000 Genomes Browser:
rs267607501
Molecular consequence:
  • NM_001131019.3:c.256_259delinsGAGT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001242376.3:c.256_259delinsGAGT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001363846.2:c.256_259delinsGAGT - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002055.5:c.256_259delinsGAGT - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000087987Epithelial 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, SCV000087987.1

#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: Oct 8, 2022