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NM_000168.6(GLI3):c.1343C>T (p.Ala448Val) AND Greig cephalopolysyndactyly syndrome

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Nov 28, 2017
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000608659.1

Allele description [Variation Report for NM_000168.6(GLI3):c.1343C>T (p.Ala448Val)]

NM_000168.6(GLI3):c.1343C>T (p.Ala448Val)

Gene:
GLI3:GLI family zinc finger 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
7p14.1
Genomic location:
Preferred name:
NM_000168.6(GLI3):c.1343C>T (p.Ala448Val)
HGVS:
  • NC_000007.14:g.42025277G>A
  • NG_008434.1:g.216743C>T
  • NM_000168.6:c.1343C>TMANE SELECT
  • NP_000159.3:p.Ala448Val
  • NC_000007.13:g.42064876G>A
Protein change:
A448V
Links:
dbSNP: rs912576738
NCBI 1000 Genomes Browser:
rs912576738
Molecular consequence:
  • NM_000168.6:c.1343C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Greig cephalopolysyndactyly syndrome (GCPS)
Synonyms:
Greig syndrome; Polysyndactyly with peculiar skull shape
Identifiers:
MONDO: MONDO:0008287; MedGen: C0265306; Orphanet: 380; OMIM: 175700

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000731251HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI-WGS-HudsonAlpha
criteria provided, single submitter

(HA_AGHI_assertions_20171208)		Uncertain significance
(Nov 28, 2017) 		unknownresearch

Citation Link

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Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknown1not providednot provided1not providedresearch

Details of each submission

From HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology - AGHI-WGS-HudsonAlpha, SCV000731251.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedresearchnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknown1not providednot provided1not providednot providednot provided

Last Updated: Jul 29, 2023