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NM_022041.4(GAN):c.141C>G (p.Ile47Met)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 1, 2020)
Accession:
VCV000981180.1
Variation ID:
981180
Description:
single nucleotide variant
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NM_022041.4(GAN):c.141C>G (p.Ile47Met)

Allele ID
969266
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
16q23.2
Genomic location
16: 81315254 (GRCh38) GRCh38 UCSC
16: 81348859 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000016.10:g.81315254C>G
NC_000016.9:g.81348859C>G
NM_022041.4:c.141C>G MANE Select NP_071324.1:p.Ile47Met missense
... more HGVS
Protein change
I47M
Other names
-
Canonical SPDI
NC_000016.10:81315253:C: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 no assertion criteria provided - RCV001260517.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
GAN - - GRCh38
GRCh37
477 529

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(-)
no assertion criteria provided
Method: clinical testing
Muscular hypotonia
Allele origin: unknown
Institute of Human Genetics,University of Wuerzburg
Accession: SCV001437538.1
Submitted: (Oct 01, 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 10, 2020