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NM_016126.4(IFT25):c.205+38del AND not provided

Germline classification:
Benign (1 submission)
Last evaluated:
May 12, 2021
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:
RCV001709088.1

Allele description [Variation Report for NM_016126.4(IFT25):c.205+38del]

NM_016126.4(IFT25):c.205+38del

Gene:
IFT25:intraflagellar transport 25 [Gene - HGNC]
Variant type:
Deletion
Cytogenetic location:
1p32.3
Genomic location:
Preferred name:
NM_016126.4(IFT25):c.205+38del
HGVS:
  • NC_000001.11:g.53930018del
  • NM_001316935.2:c.205+38del
  • NM_001382249.1:c.205+38del
  • NM_001382250.1:c.205+38del
  • NM_001382251.1:c.76+38del
  • NM_001382252.1:c.76+38del
  • NM_001382253.1:c.168+75del
  • NM_001382254.1:c.76+38del
  • NM_001382261.1:c.205+38del
  • NM_016126.4:c.205+38delMANE SELECT
  • NC_000001.10:g.54395691del
...more
Links:
dbSNP: rs56847995
NCBI 1000 Genomes Browser:
rs56847995
Molecular consequence:
  • NM_001316935.2:c.205+38del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382249.1:c.205+38del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382250.1:c.205+38del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382251.1:c.76+38del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382252.1:c.76+38del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382253.1:c.168+75del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382254.1:c.76+38del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001382261.1:c.205+38del - intron variant - [Sequence Ontology: SO:0001627]
  • NM_016126.4:c.205+38del - 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
SCV001936696GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)
Benign
(May 12, 2021)
germlineclinical testing

Citation Link

Last Updated: Dec 24, 2023

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