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NM_019616.4(F7):c.1099T>G (p.Cys367Gly)

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Interpretation:
Pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Dec 30, 2010)
Last evaluated:
Oct 1, 2000
Accession:
VCV000012085.1
Variation ID:
12085
Description:
single nucleotide variant
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NM_019616.4(F7):c.1099T>G (p.Cys367Gly)

Allele ID
27124
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
13q34
Genomic location
13: 113118772 (GRCh38) GRCh38 UCSC
13: 113773086 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000013.10:g.113773086T>G
NC_000013.11:g.113118772T>G
NM_019616.4:c.1099T>G MANE Select NP_062562.1:p.Cys367Gly missense
... more HGVS
Protein change
C389G, C367G, C305G
Other names
F7, CYS329GLY
C329G
Canonical SPDI
NC_000013.11:113118771:T:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA121860
UniProtKB: P08709#VAR_014392
OMIM: 613878.0019
dbSNP: rs121964934
Varsome
Comment on variant
NCBI staff reviewed the sequence information reported in PubMed 11091194 Fig. 1 to determine the location of this allele on the current reference sequence.
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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 Oct 1, 2000 RCV000012866.6
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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
Pathogenic
(Oct 01, 2000)
no assertion criteria provided
Method: literature only
FACTOR VII DEFICIENCY
Allele origin: germline
OMIM
Accession: SCV000033107.4
Submitted: (Dec 30, 2010)
Evidence details
Publications
PubMed (1)

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
Two novel factor VII gene mutations in a Chinese family with factor VII deficiency. Au WY British journal of haematology 2000 PMID: 11091194

Text-mined citations for rs121964934...

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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 08, 2021