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NM_004444.4(EPHB4):c.2345T>G (p.Ile782Ser)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Jan 13, 2017)
Last evaluated:
Dec 19, 2018
Accession:
VCV000374837.1
Variation ID:
374837
Description:
single nucleotide variant
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NM_004444.4(EPHB4):c.2345T>G (p.Ile782Ser)

Allele ID
361742
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
7q22.1
Genomic location
7: 100806559 (GRCh38) GRCh38 UCSC
7: 100404181 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000007.13:g.100404181A>C
NC_000007.14:g.100806559A>C
NM_004444.4:c.2345T>G NP_004435.3:p.Ile782Ser missense
Protein change
I782S
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1057519264
OMIM: 600011.0002
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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 Dec 19, 2018 RCV000415536.2
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
EPHB4 - - GRCh38
GRCh37
15 36

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Pathogenic
(Dec 19, 2018)
no assertion criteria provided
Method: literature only
LYMPHATIC MALFORMATION 7
Allele origin: germline
OMIM
Accession: SCV000493920.2
Submitted: (Jan 13, 2017)
Evidence details
Publications
PubMed (1)

Citations for this variant

Title Author Journal Year Link
EPHB4 kinase-inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis. Martin-Almedina S The Journal of clinical investigation 2016 PMID: 27400125

Record last updated Jun 17, 2019