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NM_004174.4(SLC9A3):c.2244C>A (p.Ser748=) AND not provided

Germline classification:
Likely benign (1 submission)
Last evaluated:
Dec 26, 2023
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:
RCV003684827.2

Allele description [Variation Report for NM_004174.4(SLC9A3):c.2244C>A (p.Ser748=)]

NM_004174.4(SLC9A3):c.2244C>A (p.Ser748=)

Genes:
SLC9A3-AS1:SLC9A3 antisense RNA 1 [Gene - HGNC]
SLC9A3:solute carrier family 9 member A3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_004174.4(SLC9A3):c.2244C>A (p.Ser748=)
HGVS:
  • NC_000005.10:g.475568G>T
  • NG_046804.1:g.99861C>A
  • NG_104132.1:g.541G>T
  • NM_001284351.3:c.2217C>A
  • NM_004174.4:c.2244C>AMANE SELECT
  • NP_001271280.1:p.Ser739=
  • NP_004165.2:p.Ser748=
  • NC_000005.9:g.475683G>T
...more
Molecular consequence:
  • NM_001284351.3:c.2217C>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_004174.4:c.2244C>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV004405126Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Likely benign
(Dec 26, 2023)
germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Last Updated: Sep 29, 2024

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