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NM_020760.3(HECW2):c.-35-1G>A

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Interpretation:
Uncertain significance​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Aug 7, 2018)
Last evaluated:
Aug 7, 2018
Accession:
VCV000587613.1
Variation ID:
587613
Description:
single nucleotide variant
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NM_020760.3(HECW2):c.-35-1G>A

Allele ID
578396
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
2q32.3
Genomic location
2: 196433459 (GRCh38) GRCh38 UCSC
2: 197298183 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000002.11:g.197298183C>T
NC_000002.12:g.196433459C>T
NM_020760.3:c.-35-1G>A
... more HGVS
Protein change
-
Other names
-
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
-
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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 Aug 7, 2018 RCV000714852.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HECW2 - - GRCh38
GRCh37
27 51

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Uncertain significance
(Aug 07, 2018)
criteria provided, single submitter
Method: clinical testing
Neurodevelopmental disorder with hypotonia, seizures, and absent language
Allele origin: inherited
Genomic Research Center,Shahid Beheshti University of Medical Sciences
Accession: SCV000845591.1
Submitted: (Aug 07, 2018)
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 Jun 17, 2019