NM_001379610.1(SPINK1):c.194+2T>C AND multiple conditions
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Oct 31, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000763134.11
Allele description [Variation Report for NM_001379610.1(SPINK1):c.194+2T>C]
NM_001379610.1(SPINK1):c.194+2T>C
Condition(s)
-
branched-chain amino acid ABC transporter permease [Streptococcus pneumoniae]
branched-chain amino acid ABC transporter permease [Streptococcus pneumoniae]gi|446864170|ref|WP_000941426.1|Protein
-
Hipposideros NADH dehydrogenase subunit 2 (ND2) gene, partial cds; mitochondrial...
Hipposideros NADH dehydrogenase subunit 2 (ND2) gene, partial cds; mitochondrial.PopSet: 1488192185PopSet
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024