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NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
2 (Most recent: Nov 16, 2020)
Last evaluated:
Jun 1, 2017
Accession:
VCV000446638.2
Variation ID:
446638
Description:
single nucleotide variant
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NM_025132.4(WDR19):c.3800G>A (p.Cys1267Tyr)

Allele ID
440095
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
4p14
Genomic location
4: 39277103 (GRCh38) GRCh38 UCSC
4: 39278723 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000004.11:g.39278723G>A
NC_000004.12:g.39277103G>A
NM_025132.4:c.3800G>A MANE Select NP_079408.3:p.Cys1267Tyr missense
... more HGVS
Protein change
C1267Y, C1107Y
Other names
-
Canonical SPDI
NC_000004.12:39277102:G:A
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00001
Links
ClinGen: CA2892485
dbSNP: rs745603321
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 no assertion criteria provided Jun 1, 2017 RCV000516083.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
WDR19 - - GRCh38
GRCh37
446 472

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Jun 01, 2017)
no assertion criteria provided
Method: research
Asphyxiating thoracic dystrophy
Allele origin: maternal
Dan Cohn Lab,University Of California Los Angeles
Accession: SCV000612050.1
Submitted: (Sep 01, 2017)
Evidence details
Publications
PubMed (1)
Likely pathogenic
(-)
no assertion criteria provided
Method: research
asphyxiating thoracic dystrophy
Allele origin: inherited
University of Washington Center for Mendelian Genomics, University of Washington
Accession: SCV001479403.1
Submitted: (Nov 16, 2020)
Evidence details

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
Expanding the genetic architecture and phenotypic spectrum in the skeletal ciliopathies. Zhang W Human mutation 2018 PMID: 29068549

Text-mined citations for rs745603321...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Apr 06, 2021