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NM_006359.3(SLC9A6):c.1632-19_1632-3del

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 19, 2018)
Accession:
VCV000598968.1
Variation ID:
598968
Description:
17bp deletion
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NM_006359.3(SLC9A6):c.1632-19_1632-3del

Allele ID
590095
Variant type
Deletion
Variant length
17 bp
Cytogenetic location
Xq26.3
Genomic location
X: 136040055-136040071 (GRCh38) GRCh38 UCSC
X: 135122214-135122230 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000023.10:g.135122216_135122232del
NC_000023.11:g.136040057_136040073del
NG_017160.1:g.59631_59647del
... more HGVS
Protein change
-
Other names
-
Canonical SPDI
NC_000023.11:136040054:GCTCTTCCTTAACCACCGC:GC
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
dbSNP: rs1569525894
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 - RCV000735325.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
SLC9A6 Sufficient evidence for dosage pathogenicity No evidence available GRCh38
GRCh37
261 435

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
Autistic disorder of childhood onset
Chorea
Clinodactyly of the 5th finger
Deeply set eye
Esotropia
Failure to thrive
Focal white matter lesions
Generalized hypotonia
Global developmental delay
Impaired use of nonverbal behaviors
Pectus excavatum
Postnatal microcephaly
Seizures
Short stature
Allele origin: germline
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles
Accession: SCV000854479.1
Submitted: (Nov 19, 2018)
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.

Text-mined citations for rs1569525894...

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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 Oct 08, 2021