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NM_001145199.2(C12orf75):c.152A>G (p.Asn51Ser) AND not specified

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 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:
RCV004197432.1

Allele description [Variation Report for NM_001145199.2(C12orf75):c.152A>G (p.Asn51Ser)]

NM_001145199.2(C12orf75):c.152A>G (p.Asn51Ser)

Gene:
C12orf75:chromosome 12 open reading frame 75 [Gene - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.3
Genomic location:
Preferred name:
NM_001145199.2(C12orf75):c.152A>G (p.Asn51Ser)
HGVS:
  • NC_000012.12:g.105366661A>G
  • NM_001145199.2:c.152A>GMANE SELECT
  • NP_001138671.1:p.Asn51Ser
  • NC_000012.11:g.105760439A>G
  • NM_001145199.1:c.152A>G
Protein change:
N51S
Molecular consequence:
  • NM_001145199.2:c.152A>G - 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
SCV003690449Ambry Genetics
criteria provided, single submitter

(Ambry Variant Classification Scheme 2023)
Uncertain significance
(Aug 12, 2021)
germlineclinical testing

Citation Link

Last Updated: Nov 24, 2024

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