NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn) AND Intellectual disability, X-linked 49

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Feb 18, 2020
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV001270424.2

Allele description [Variation Report for NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)]

NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)

Gene:

CLCN4:chloride voltage-gated channel 4 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp22.2

Genomic location:

Preferred name:

NM_001830.4(CLCN4):c.130G>A (p.Asp44Asn)

HGVS:

NC_000023.11:g.10185162G>A
NG_012496.1:g.33218G>A
NM_001256944.2:c.-38-9749G>A
NM_001830.4:c.130G>AMANE SELECT
NP_001821.2:p.Asp44Asn
NC_000023.10:g.10153202G>A
NM_001830.3:c.130G>A

Protein change:

D44N

Links:

Molecular consequence:

NM_001256944.2:c.-38-9749G>A - intron variant - [Sequence Ontology: SO:0001627]
NM_001830.4:c.130G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Intellectual disability, X-linked 49 (MRXSRC)
Synonyms:: MRX49; MENTAL RETARDATION, X-LINKED 15; RAYNAUD-CLAES SYNDROME; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010250; MedGen: C0796221; Orphanet: 777; OMIM: 300114

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV001450711	Service de Génétique Moléculaire, Hôpital Robert Debré	no assertion criteria provided	Uncertain significance (Feb 18, 2020)	maternal	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV001450711

Service de Génétique Moléculaire, Hôpital Robert Debré

no assertion criteria provided

Uncertain significance
(Feb 18, 2020)

maternal

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	maternal	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Service de Génétique Moléculaire, Hôpital Robert Debré, SCV001450711.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	maternal	yes	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 23, 2024

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