NM_000303.3(PMM2):c.348-8A>G AND not specified
- Germline classification:
- Likely benign (1 submission)
- Last evaluated:
- Dec 16, 2016
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000419829.1
Allele description [Variation Report for NM_000303.3(PMM2):c.348-8A>G]
NM_000303.3(PMM2):c.348-8A>G
Condition(s)
- Synonyms:
- AllHighlyPenetrant
- Identifiers:
- MedGen: CN169374
-
PREDICTED: aspartyl/asparaginyl beta-hydroxylase [Crocodylus porosus]
PREDICTED: aspartyl/asparaginyl beta-hydroxylase [Crocodylus porosus]gi|1121796969|ref|XP_019398752.1|Protein
-
RecName: Full=Xylosyl- and glucuronyltransferase LARGE1; AltName: Full=Acetylglu...
RecName: Full=Xylosyl- and glucuronyltransferase LARGE1; AltName: Full=Acetylglucosaminyltransferase-like 1A; AltName: Full=Glycosyltransferase-like protein; AltName: Full=LARGE xylosyl- and glucuronyltransferase 1; Includes: RecName: Full=Alpha-1,3-xylosyltransferase LARGE1; Includes: RecName: Full=Beta-1,3-glucuronyltransferase LARGE1gi|22001684|sp|O95461.1|LARG1_HUMANProtein
-
LOC107413066 [Ziziphus jujuba]
LOC107413066 [Ziziphus jujuba]Gene ID:107413066Gene
-
LOC107421412 [Ziziphus jujuba]
LOC107421412 [Ziziphus jujuba]Gene ID:107421412Gene
-
ttv [Helicoverpa zea]
ttv [Helicoverpa zea]Gene ID:124631134Gene
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023