NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) AND Neural tube defects, folate-sensitive
- Germline classification:
- Pathogenic (1 submission)
- Last evaluated:
- Jun 8, 2023
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV003460434.1
Allele description [Variation Report for NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)]
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)
Condition(s)
-
Golgi SNAP receptor complex member 2 isoform X18 [Homo sapiens]
Golgi SNAP receptor complex member 2 isoform X18 [Homo sapiens]gi|2462558992|ref|XP_054173878.1|Protein
-
Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript variant D,...
Homo sapiens golgi SNAP receptor complex member 2 (GOSR2), transcript variant D, mRNAgi|1677539427|ref|NM_001321133.2|Nucleotide
-
HUM041H11A Clontech human fetal brain polyA+ mRNA (#6535) Homo sapiens cDNA clon...
HUM041H11A Clontech human fetal brain polyA+ mRNA (#6535) Homo sapiens cDNA clone GEN-041H11 3', mRNA sequencegi|960608|gnl|dbEST|334489|dbj|D595Nucleotide
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See more...Assertion and evidence details
Last Updated: Oct 8, 2024