NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs) AND Allan-Herndon-Dudley syndrome

Germline classification:: Pathogenic (1 submission)
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:: RCV001794858.1

Allele description [Variation Report for NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs)]

NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs)

Gene:

SLC16A2:solute carrier family 16 member 2 [Gene - OMIM - HGNC]

Variant type:

Duplication

Cytogenetic location:

Xq13.2

Genomic location:

Preferred name:

NM_006517.5(SLC16A2):c.852_862dup (p.Gln288fs)

HGVS:

NC_000023.11:g.74524635_74524645dup
NG_011641.2:g.108386_108396dup
NM_006517.5:c.852_862dupMANE SELECT
NP_006508.2:p.Gln288fs
NC_000023.10:g.73744470_73744480dup

Protein change:

Q288fs

Links:

dbSNP: rs2147870614

NCBI 1000 Genomes Browser:

rs2147870614

Molecular consequence:

NM_006517.5:c.852_862dup - frameshift variant - [Sequence Ontology: SO:0001589]

Observations:

Condition(s)

Name:: Allan-Herndon-Dudley syndrome (AHDS)
Synonyms:: T3 RESISTANCE; TRIIODOTHYRONINE RESISTANCE; Allan-Herndon syndrome; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0010354; MedGen: C0795889; Orphanet: 59; OMIM: 300523

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Dendrobium christyanum isolate gi34 internal transcribed spacer 1, partial seque...
Dendrobium christyanum isolate gi34 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequence
gi|1735623815|gb|MK522207.1|

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002032376	Institute of Human Genetics, Cologne University	no assertion criteria provided	Pathogenic	unknown	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002032376

Institute of Human Genetics, Cologne University

no assertion criteria provided

Pathogenic

unknown

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	yes	1	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Institute of Human Genetics, Cologne University, SCV002032376.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1		1	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	unknown	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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