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NM_020665.6(CLTRN):c.137A>T (p.Glu46Val) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 30, 2024
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:
RCV004439511.1

Allele description [Variation Report for NM_020665.6(CLTRN):c.137A>T (p.Glu46Val)]

NM_020665.6(CLTRN):c.137A>T (p.Glu46Val)

Gene:
CLTRN:collectrin, amino acid transport regulator [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
Xp22.2
Genomic location:
Preferred name:
NM_020665.6(CLTRN):c.137A>T (p.Glu46Val)
HGVS:
  • NC_000023.11:g.15659082T>A
  • NG_015970.1:g.10950A>T
  • NM_020665.3:c.137A>T
  • NM_020665.6:c.137A>TMANE SELECT
  • NP_065716.1:p.Glu46Val
  • NC_000023.10:g.15677205T>A
  • NM_020665.4:c.137A>T
...more
Protein change:
E46V
Molecular consequence:
  • NM_020665.6:c.137A>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
AllHighlyPenetrant
Identifiers:
MedGen: CN169374

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV004929127Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Jan 30, 2024)
germlineclinical testing

Citation Link

Last Updated: Sep 8, 2024

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