NM_000391.4(TPP1):c.763G>C (p.Ala255Pro) AND Neuronal ceroid lipofuscinosis
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Dec 11, 2019
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001059092.1
Allele description [Variation Report for NM_000391.4(TPP1):c.763G>C (p.Ala255Pro)]
NM_000391.4(TPP1):c.763G>C (p.Ala255Pro)
Condition(s)
-
Homo sapiens solute carrier family 35, member C2, mRNA (cDNA clone MGC:32079 IMA...
Homo sapiens solute carrier family 35, member C2, mRNA (cDNA clone MGC:32079 IMAGE:4870715), complete cdsgi|18089293|gb|BC021138.1|Nucleotide
-
K-EST0125820 S13KMS5 Homo sapiens cDNA clone S13KMS5-40-F10 5', mRNA sequence
K-EST0125820 S13KMS5 Homo sapiens cDNA clone S13KMS5-40-F10 5', mRNA sequencegi|19203143|gnl|dbEST|11446808|gb|B 44.1|Nucleotide
-
MOB1 Mob1p [Saccharomyces cerevisiae S288C]
MOB1 Mob1p [Saccharomyces cerevisiae S288C]Gene ID:854700Gene
-
Profile neighbors for GEO Profiles (Select 120967175) (200)
GEO Profiles
-
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assemblyBioProject
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See more...Assertion and evidence details
Last Updated: Apr 23, 2022