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NM_001376.5(DYNC1H1):c.9403C>A (p.Gln3135Lys)

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 5, 2017)
Last evaluated:
Apr 25, 2016
Accession:
VCV000434990.1
Variation ID:
434990
Description:
single nucleotide variant
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NM_001376.5(DYNC1H1):c.9403C>A (p.Gln3135Lys)

Allele ID
429531
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
14q32.31
Genomic location
14: 102028076 (GRCh38) GRCh38 UCSC
14: 102494413 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000014.8:g.102494413C>A
NC_000014.9:g.102028076C>A
NM_001376.5:c.9403C>A NP_001367.2:p.Gln3135Lys missense
NG_008777.1:g.68549C>A
Protein change
Q3135K
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
The Genome Aggregation Database (gnomAD), exomes 0.00000
Links
ClinGen: CA266962940
dbSNP: rs1049866462
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Uncertain significance 1 criteria provided, single submitter Apr 25, 2016 RCV000504213.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
DYNC1H1 - - GRCh38
GRCh37
1139 1177

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Apr 25, 2016)
criteria provided, single submitter
Method: clinical testing
not specified
Allele origin: germline
Genetic Services Laboratory, University of Chicago
Accession: SCV000594445.1
Submitted: (Jul 05, 2017)
Evidence details

Citations for this variant

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 Dec 06, 2019