NM_001330260.2(SCN8A):c.5745C>T (p.Phe1915=) AND SCN8A-related disorder
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Jan 4, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV004532255.1
Allele description [Variation Report for NM_001330260.2(SCN8A):c.5745C>T (p.Phe1915=)]
NM_001330260.2(SCN8A):c.5745C>T (p.Phe1915=)
Condition(s)
- Name:
- SCN8A-related disorder
- Identifiers:
-
Danio rerio chromosome 14 genomic contig ALT_CTG14_1_36, GRCz11 reference assemb...
Danio rerio chromosome 14 genomic contig ALT_CTG14_1_36, GRCz11 reference assembly alternate locus group ALT_DRER_TU_1gi|1193823314|gnl|ASM:GCA_002119155 T_CTG14_1_36|gb|KZ115463.1|Nucleotide
-
Danio rerio chromosome 6 genomic contig ALT_CTG6_1_5, GRCz11 reference assembly ...
Danio rerio chromosome 6 genomic contig ALT_CTG6_1_5, GRCz11 reference assembly alternate locus group ALT_DRER_TU_1gi|1193823614|gnl|ASM:GCA_002119155 T_CTG6_1_5|gb|KZ115164.1|Nucleotide
-
Danio rerio chromosome 8 genomic contig ALT_CTG8_2_5, GRCz11 reference assembly ...
Danio rerio chromosome 8 genomic contig ALT_CTG8_2_5, GRCz11 reference assembly alternate locus group ALT_DRER_TU_2gi|1193823879|gnl|ASM:GCA_002119165 T_CTG8_2_5|gb|KZ114899.1|Nucleotide
-
Danio rerio chromosome 7 genomic contig ALT_CTG7_1_9, GRCz11 reference assembly ...
Danio rerio chromosome 7 genomic contig ALT_CTG7_1_9, GRCz11 reference assembly alternate locus group ALT_DRER_TU_1gi|1193823562|gnl|ASM:GCA_002119155 T_CTG7_1_9|gb|KZ115216.1|Nucleotide
-
Danio rerio chromosome 5 genomic contig ALT_CTG5_1_57, GRCz11 reference assembly...
Danio rerio chromosome 5 genomic contig ALT_CTG5_1_57, GRCz11 reference assembly alternate locus group ALT_DRER_TU_1gi|1193823623|gnl|ASM:GCA_002119155 T_CTG5_1_57|gb|KZ115155.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Sep 8, 2024