NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln) AND multiple conditions
- Germline classification:
- not provided (1 submission)
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003483586.1
Allele description [Variation Report for NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)]
NM_002691.4(POLD1):c.1562G>A (p.Arg521Gln)
Condition(s)
- Name:
- Familial colorectal cancer
- Identifiers:
- MONDO: MONDO:0023113; MedGen: CN280943
-
CF202010.1 AND 1[s_discriminator] (0)
dbGaP
-
CF202010.1 (0)
GEO DataSets
-
RecName: Full=Sodium- and chloride-dependent GABA transporter 3; Short=GAT-3; Al...
RecName: Full=Sodium- and chloride-dependent GABA transporter 3; Short=GAT-3; AltName: Full=Sodium- and chloride-dependent GABA transporter 4; Short=GAT-4; AltName: Full=Solute carrier family 6 member 11gi|341942004|sp|P31650.2|S6A11_MOUSProtein
-
3-oxoacid CoA-transferase, subunit B [Limnobacter sp. MED105]
3-oxoacid CoA-transferase, subunit B [Limnobacter sp. MED105]gi|149822767|gb|EDM82022.1||gnl|WGS |1103186003308_LMED105_12252Protein
-
Lingual dystonia
Lingual dystoniaMedGen
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Last Updated: Oct 8, 2024