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NM_018934.4(PCDHB14):c.163G>C (p.Gly55Arg) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
May 20, 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:
RCV004653179.1

Allele description [Variation Report for NM_018934.4(PCDHB14):c.163G>C (p.Gly55Arg)]

NM_018934.4(PCDHB14):c.163G>C (p.Gly55Arg)

Genes:
PCDHB14:protocadherin beta 14 [Gene - OMIM - HGNC]
PCDHB@:protocadherin beta cluster [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5q31.3
Genomic location:
Preferred name:
NM_018934.4(PCDHB14):c.163G>C (p.Gly55Arg)
HGVS:
  • NC_000005.10:g.141223668G>C
  • NG_000017.2:g.191793G>C
  • NM_018934.4:c.163G>CMANE SELECT
  • NP_061757.1:p.Gly55Arg
  • NC_000005.9:g.140603240G>C
  • NM_018934.2:c.163G>C
...more
Protein change:
G55R
Molecular consequence:
  • NM_018934.4:c.163G>C - 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
SCV005150403Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(May 20, 2024)
germlineclinical testing

Citation Link

Last Updated: Aug 11, 2024

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