NM_000405.5(GM2A):c.4C>T (p.Gln2Ter) AND Tay-Sachs disease, variant AB
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Sep 6, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001782204.4
Allele description [Variation Report for NM_000405.5(GM2A):c.4C>T (p.Gln2Ter)]
NM_000405.5(GM2A):c.4C>T (p.Gln2Ter)
Condition(s)
-
Homo sapiens cDNA FLJ41209 fis, clone BRALZ2012848
Homo sapiens cDNA FLJ41209 fis, clone BRALZ2012848gi|34528690|dbj|AK123203.1|Nucleotide
-
UNVERIFIED: Dipteris chinensis voucher MTDEG-381 ribulose-1,5-bisphosphate carbo...
UNVERIFIED: Dipteris chinensis voucher MTDEG-381 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial sequence; rbcL-accD intergenic spacer, complete sequence; and acetyl-coenzyme A carboxylase beta subunit (accD) gene, partial sequence; chloroplastgi|2177995492|gb|MZ365255.1|Nucleotide
-
UNVERIFIED: Dipteris sp. ZYW-2022a voucher YYH15638 ribulose-1,5-bisphosphate ca...
UNVERIFIED: Dipteris sp. ZYW-2022a voucher YYH15638 ribulose-1,5-bisphosphate carboxylase/oxygenase large subunit (rbcL) gene, partial sequence; rbcL-accD intergenic spacer, complete sequence; and acetyl-coenzyme A carboxylase beta subunit (accD) gene, partial sequence; chloroplastgi|2177995495|gb|MZ365258.1|Nucleotide
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Last Updated: Mar 16, 2024