NM_001079668.3(NKX2-1):c.78-151A>G AND Choreoathetosis, hypothyroidism, and neonatal respiratory distress

Clinical significance:Likely benign (Last evaluated: May 28, 2019)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000989206.1

Allele description [Variation Report for NM_001079668.3(NKX2-1):c.78-151A>G]

NM_001079668.3(NKX2-1):c.78-151A>G

Genes:
NKX2-1:NK2 homeobox 1 [Gene - OMIM - HGNC]
NKX2-1-AS1:NKX2-1 antisense RNA 1 [Gene - HGNC]
SFTA3:surfactant associated 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q13.3
Genomic location:
Preferred name:
NM_001079668.3(NKX2-1):c.78-151A>G
HGVS:
  • NC_000014.9:g.36519521T>C
  • NG_013365.1:g.5705A>G
  • NM_001079668.3:c.78-151A>GMANE SELECT
  • NM_003317.4:c.-164A>G
  • NC_000014.8:g.36988726T>C
  • NR_103710.1:n.244T>C
  • NR_161364.1:n.36A>G
  • NR_161365.1:n.36A>G
Links:
dbSNP: rs1003307358
NCBI 1000 Genomes Browser:
rs1003307358
Molecular consequence:
  • NM_003317.4:c.-164A>G - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
  • NM_001079668.3:c.78-151A>G - intron variant - [Sequence Ontology: SO:0001627]
  • NR_103710.1:n.244T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_161364.1:n.36A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
  • NR_161365.1:n.36A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Choreoathetosis, hypothyroidism, and neonatal respiratory distress (CAHTP)
Synonyms:
BRAIN-LUNG-THYROID SYNDROME; CHOREOATHETOSIS AND CONGENITAL HYPOTHYROIDISM WITH PULMONARY DYSFUNCTION
Identifiers:
MONDO: MONDO:0012593; MedGen: C1970269; Orphanet: 209905; OMIM: 610978

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001139435Mendelicscriteria provided, single submitter
Likely benign
(May 28, 2019)
unknownclinical testing

Citation Link

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Mendelics, SCV001139435.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Jun 27, 2020

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