NM_000071.3(CBS):c.1549del (p.Gln517fs) AND HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Apr 15, 2022
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003044032.2
Allele description [Variation Report for NM_000071.3(CBS):c.1549del (p.Gln517fs)]
NM_000071.3(CBS):c.1549del (p.Gln517fs)
Condition(s)
- Name:
- HYPERHOMOCYSTEINEMIA, THROMBOTIC, CBS-RELATED
- Identifiers:
- MedGen: C3150344
-
Phytophthora pseudocryptogea voucher Ts2 small subunit ribosomal RNA gene, parti...
Phytophthora pseudocryptogea voucher Ts2 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1, 5.8S ribosomal RNA gene, and internal transcribed spacer 2, complete sequence; and large subunit ribosomal RNA gene, partial sequencegi|1469273818|gb|MF797807.1|Nucleotide
-
Phytophthora pseudocryptogea isolate R13K6 small subunit ribosomal RNA gene, par...
Phytophthora pseudocryptogea isolate R13K6 small subunit ribosomal RNA gene, partial sequence; internal transcribed spacer 1 and 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|1281285596|gb|MG587712.1|Nucleotide
-
txid1821206[orgn] AND "strain TAS143"[All Fields] (2)
Nucleotide
-
Phytophthora pseudocryptogea isolate VHS 36521 internal transcribed spacer 1, pa...
Phytophthora pseudocryptogea isolate VHS 36521 internal transcribed spacer 1, partial sequence; 5.8S ribosomal RNA gene, complete sequence; and internal transcribed spacer 2, partial sequencegi|2548357756|gb|OR295154.1|Nucleotide
-
txid1821206[orgn] AND "isolate LEV6694"[All Fields] (2)
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Last Updated: Feb 20, 2024