NM_139058.3(ARX):c.1515A>C (p.Thr505=) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 27, 2014
Review status:: 1 star out of maximum of 4 stars
criteria provided, single submitter

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:: RCV000082602.15

Allele description [Variation Report for NM_139058.3(ARX):c.1515A>C (p.Thr505=)]

NM_139058.3(ARX):c.1515A>C (p.Thr505=)

Gene:

ARX:aristaless related homeobox [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xp21.3

Genomic location:

Preferred name:

NM_139058.3(ARX):c.1515A>C (p.Thr505=)

HGVS:

NC_000023.11:g.25004844T>G
NG_008281.1:g.16105A>C
NM_139058.3:c.1515A>CMANE SELECT
NP_620689.1:p.Thr505=
NC_000023.10:g.25022961T>G
NM_139058.2:c.1515A>C
NP_620689.1:p.(=)
NP_620689.1:p.(=)

Links:

dbSNP: rs398124509

NCBI 1000 Genomes Browser:

rs398124509

Molecular consequence:

NM_139058.3:c.1515A>C - synonymous variant - [Sequence Ontology: SO:0001819]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

Recent activity

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Homo sapiens Wnt family member 7A (WNT7A), mRNA
Homo sapiens Wnt family member 7A (WNT7A), mRNA
gi|1653960952|ref|NM_004625.4|

Nucleotide
Ugt2b37 UDP-glucuronosyltransferase 2 family, member 37 [Rattus norvegicus]
Ugt2b37 UDP-glucuronosyltransferase 2 family, member 37 [Rattus norvegicus]
Gene ID:29623

Gene

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000114644	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Aug 27, 2014)	germline	clinical testing	Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000114644

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Aug 27, 2014)

germline

clinical testing

Citation Link

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	17	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Eurofins Ntd Llc (ga), SCV000114644.8

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	17	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	germline	unknown	not provided	not provided	not provided		17	not provided	not provided	not provided

Last Updated: Oct 26, 2024

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