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NM_006172.4(NPPA):c.449G>A (p.Arg150Gln) AND Atrial fibrillation, familial, 6

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 13, 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:
RCV001344090.5

Allele description [Variation Report for NM_006172.4(NPPA):c.449G>A (p.Arg150Gln)]

NM_006172.4(NPPA):c.449G>A (p.Arg150Gln)

Genes:
NPPA-AS1:NPPA antisense RNA 1 [Gene - HGNC]
LOC114827827:VISTA enhancer hs2123 [Gene]
NPPA:natriuretic peptide A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1p36.22
Genomic location:
Preferred name:
NM_006172.4(NPPA):c.449G>A (p.Arg150Gln)
HGVS:
  • NC_000001.11:g.11847114C>T
  • NG_012926.1:g.5670G>A
  • NG_065183.1:g.396C>T
  • NM_006172.4:c.449G>AMANE SELECT
  • NP_006163.1:p.Arg150Gln
  • LRG_751t1:c.449G>A
  • LRG_751:g.5670G>A
  • NC_000001.10:g.11907171C>T
  • NM_006172.3:c.449G>A
...more
Protein change:
R150Q; ARG150GLN
Links:
OMIM: 108780.0003; dbSNP: rs202102042
NCBI 1000 Genomes Browser:
rs202102042
Molecular consequence:
  • NM_006172.4:c.449G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Atrial fibrillation, familial, 6 (ATFB6)
Identifiers:
MONDO: MONDO:0012816; MedGen: C2677294; OMIM: 612201

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001538126Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))
Uncertain significance
(Jan 13, 2024)
germlineclinical testing

PubMed (2)
[]

Last Updated: Sep 29, 2024

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