NM_005751.5(AKAP9):c.665A>G (p.Asp222Gly) AND Long QT syndrome 11
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Mar 30, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003224631.1
Allele description [Variation Report for NM_005751.5(AKAP9):c.665A>G (p.Asp222Gly)]
NM_005751.5(AKAP9):c.665A>G (p.Asp222Gly)
Condition(s)
-
Homo sapiens isolate CHM13 chromosome 14, alternate assembly T2T-CHM13v2.0
Homo sapiens isolate CHM13 chromosome 14, alternate assembly T2T-CHM13v2.0gi|2194973091|gnl|ASM:GCF_009914825 ef|NC_060938.1||gpp|GPC_000012753.1||gnl|NCBI_GENOMES|119574Nucleotide
-
PREDICTED: Homo sapiens ADP ribosylation factor GTPase activating protein 1 (ARF...
PREDICTED: Homo sapiens ADP ribosylation factor GTPase activating protein 1 (ARFGAP1), transcript variant X8, mRNAgi|2217335571|ref|XM_047440288.1|Nucleotide
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Last Updated: May 1, 2024