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NM_019616.4(F7):c.84A>C (p.Glu28Asp)

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Interpretation:
Likely benign​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: May 13, 2021)
Last evaluated:
Apr 28, 2021
Accession:
VCV001098442.1
Variation ID:
1098442
Description:
single nucleotide variant
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NM_019616.4(F7):c.84A>C (p.Glu28Asp)

Allele ID
1087219
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q34
Genomic location
13: 113110709 (GRCh38) GRCh38 UCSC
13: 113765023 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.113765023A>C
NC_000013.11:g.113110709A>C
NM_019616.4:c.84A>C MANE Select NP_062562.1:p.Glu28Asp missense
... more HGVS
Protein change
E28D, E50D
Other names
-
Canonical SPDI
NC_000013.11:113110708:A:C
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
Varsome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely benign 1 criteria provided, single submitter Apr 28, 2021 RCV001420374.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
F7 - - GRCh38
GRCh37
160 282

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely benign
(Apr 28, 2021)
criteria provided, single submitter
Method: research
Factor VII deficiency
Allele origin: germline
Center for Genomic Medicine,King Faisal Specialist Hospital and Research Center
Accession: SCV001622533.1
Submitted: (May 13, 2021)
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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated May 20, 2021