NM_018055.5(NODAL):c.548G>A (p.Arg183Gln) AND not provided

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Jul 3, 2013
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:: RCV000081931.15

Allele description [Variation Report for NM_018055.5(NODAL):c.548G>A (p.Arg183Gln)]

NM_018055.5(NODAL):c.548G>A (p.Arg183Gln)

Gene:

NODAL:nodal growth differentiation factor [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

10q22.1

Genomic location:

Preferred name:

NM_018055.5(NODAL):c.548G>A (p.Arg183Gln)

HGVS:

NC_000010.11:g.70435629C>T
NG_012448.2:g.17320G>A
NM_001329906.2:c.149G>A
NM_018055.5:c.548G>AMANE SELECT
NP_001316835.1:p.Arg50Gln
NP_060525.3:p.Arg183Gln
NP_060525.3:p.Arg183Gln
NC_000010.10:g.72195385C>T
NM_018055.4:c.548G>A
Q96S42:p.Arg183Gln

Protein change:

R183Q; ARG183GLN

Links:

UniProtKB: Q96S42#VAR_015111; OMIM: 601265.0001; dbSNP: rs104894169

NCBI 1000 Genomes Browser:

rs104894169

Molecular consequence:

NM_001329906.2:c.149G>A - missense variant - [Sequence Ontology: SO:0001583]
NM_018055.5:c.548G>A - missense variant - [Sequence Ontology: SO:0001583]

Observations:

Condition(s)

Synonyms:: none provided
Identifiers:: MedGen: C3661900

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000113866	Eurofins Ntd Llc (ga)	criteria provided, single submitter (EGL Classification Definitions 2015)	Uncertain significance (Jul 3, 2013)	germline	clinical testing	PubMed (1) [See all records that cite this PMID] Citation Link

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000113866

Eurofins Ntd Llc (ga)

criteria provided, single submitter

(EGL Classification Definitions 2015)

Uncertain significance
(Jul 3, 2013)

germline

clinical testing

PubMed (1)
[See all records that cite this PMID]

Citation Link

Help

Summary from all submissions

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

Citations

PubMed

X-linked situs abnormalities result from mutations in ZIC3.

Gebbia M, Ferrero GB, Pilia G, Bassi MT, Aylsworth A, Penman-Splitt M, Bird LM, Bamforth JS, Burn J, Schlessinger D, Nelson DL, Casey B.

Nat Genet. 1997 Nov;17(3):305-8.

PubMed [citation]

PMID:: 9354794

Details of each submission

From Eurofins Ntd Llc (ga), SCV000113866.8

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

#	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		1	not provided	not provided	not provided

Last Updated: Jun 2, 2024

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