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NM_175607.3(CNTN4):c.2511+173C>T AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
Nov 10, 2018
Review status:
Somatic classification
of clinical impact:
None
Review status:
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
no assertion criteria provided
Record status:
current
Accession:
RCV001595921.3

Allele description [Variation Report for NM_175607.3(CNTN4):c.2511+173C>T]

NM_175607.3(CNTN4):c.2511+173C>T

Genes:
CNTN4-AS1:CNTN4 antisense RNA 1 [Gene - HGNC]
CNTN4:contactin 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p26.2
Genomic location:
Preferred name:
NM_175607.3(CNTN4):c.2511+173C>T
HGVS:
  • NC_000003.12:g.3042595C>T
  • NG_012827.2:g.947033C>T
  • NM_001206955.2:c.2511+173C>T
  • NM_001206956.2:c.1524+173C>T
  • NM_001350095.2:c.2511+173C>T
  • NM_175607.3:c.2511+173C>TMANE SELECT
  • NM_175613.3:c.1527+173C>T
  • NC_000003.11:g.3084279C>T
...more
Links:
dbSNP: rs7644007
NCBI 1000 Genomes Browser:
rs7644007
Molecular consequence:
  • NM_001206955.2:c.2511+173C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001206956.2:c.1524+173C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001350095.2:c.2511+173C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_175607.3:c.2511+173C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_175613.3:c.1527+173C>T - intron variant - [Sequence Ontology: SO:0001627]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001829110GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(Nov 10, 2018)
germlineclinical testing

Citation Link

Last Updated: Dec 24, 2023

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