NM_014363.6(SACS):c.6290del (p.Cys2097fs) AND not provided
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 23, 2020
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001268275.2
Allele description [Variation Report for NM_014363.6(SACS):c.6290del (p.Cys2097fs)]
NM_014363.6(SACS):c.6290del (p.Cys2097fs)
Condition(s)
- Synonyms:
- none provided
- Identifiers:
- MedGen: C3661900
-
Melanotaenia praecox mitochondrion, complete genome
Melanotaenia praecox mitochondrion, complete genomegi|1027253442|gb|KU743245.1|Nucleotide
-
Melanotaenia praecox isolate Mprae.Biri.1 cytochrome b (Cytb) gene, complete cds...
Melanotaenia praecox isolate Mprae.Biri.1 cytochrome b (Cytb) gene, complete cds; mitochondrialgi|827515607|gb|KP345870.1|Nucleotide
-
PREDICTED: Rattus norvegicus eukaryotic translation initiation factor 4 gamma 1 ...
PREDICTED: Rattus norvegicus eukaryotic translation initiation factor 4 gamma 1 (Eif4g1), transcript variant X29, mRNAgi|2678884284|ref|XM_063270360.1|Nucleotide
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Last Updated: Oct 8, 2024