NM_000492.4(CFTR):c.244A>G (p.Met82Val) AND Cystic fibrosis
- Germline classification:
- Uncertain significance (3 submissions)
- Last evaluated:
- Feb 24, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000673216.9
Allele description [Variation Report for NM_000492.4(CFTR):c.244A>G (p.Met82Val)]
NM_000492.4(CFTR):c.244A>G (p.Met82Val)
Condition(s)
-
receptor-type tyrosine-protein phosphatase S isoform X20 [Homo sapiens]
receptor-type tyrosine-protein phosphatase S isoform X20 [Homo sapiens]gi|2462566651|ref|XP_054177602.1|Protein
-
transcriptional repressor p66-alpha isoform X6 [Cavia porcellus]
transcriptional repressor p66-alpha isoform X6 [Cavia porcellus]gi|2687709186|ref|XP_063084117.1|Protein
-
HTUR_RS02860 [Haloterrigena turkmenica DSM 5511]
HTUR_RS02860 [Haloterrigena turkmenica DSM 5511]Gene ID:8741152Gene
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See more...Assertion and evidence details
Last Updated: Sep 29, 2024