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NM_024915.3(GRHL2):c.1192T>C (p.Tyr398His)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Sep 25, 2014)
Last evaluated:
Sep 4, 2014
Accession:
VCV000156216.1
Variation ID:
156216
Description:
single nucleotide variant
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NM_024915.3(GRHL2):c.1192T>C (p.Tyr398His)

Allele ID
166013
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
8q22.3
Genomic location
8: 101619632 (GRCh38) GRCh38 UCSC
8: 102631860 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000008.10:g.102631860T>C
NC_000008.11:g.101619632T>C
NM_024915.3:c.1192T>C NP_079191.2:p.Tyr398His missense
... more HGVS
Protein change
Y398H
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
UniProtKB: Q6ISB3#VAR_071989
OMIM: 608576.0003
dbSNP: rs587777737
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic 1 no assertion criteria provided Sep 4, 2014 RCV000144237.4
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GRHL2 - - GRCh38
GRCh37
50 83

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Sep 04, 2014)
no assertion criteria provided
Method: literature only
ECTODERMAL DYSPLASIA/SHORT STATURE SYNDROME
Allele origin: germline
OMIM
Accession: SCV000189371.3
Submitted: (Sep 25, 2014)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
Mutations in GRHL2 result in an autosomal-recessive ectodermal Dysplasia syndrome. Petrof G American journal of human genetics 2014 PMID: 25152456

Record last updated Mar 29, 2019