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NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jul 14, 2020)
Accession:
VCV000973573.1
Variation ID:
973573
Description:
1bp deletion
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NM_000151.4(G6PC1):c.61del (p.Gln20_Val21insTer)

Allele ID
961880
Variant type
Deletion
Variant length
1 bp
Cytogenetic location
17q21.31
Genomic location
17: 42900936 (GRCh38) GRCh38 UCSC
17: 41052953 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000017.10:g.41052954del
NC_000017.11:g.42900937del
NG_011808.1:g.5140del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000017.11:42900935:GG:G
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 pathogenic 1 criteria provided, single submitter - RCV001250218.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
G6PC1 - - GRCh38
GRCh37
294 302

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
criteria provided, single submitter
Method: clinical testing
Glycogen storage disease type 1A
Allele origin: germline
Centogene AG - the Rare Disease Company
Accession: SCV001424420.1
Submitted: (Jul 14, 2020)
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 Oct 08, 2021