NM_001130987.2(DYSF):c.3113del (p.Pro1038fs) AND Autosomal recessive limb-girdle muscular dystrophy type 2B
- Germline classification:
- Likely pathogenic (1 submission)
- Last evaluated:
- Dec 3, 2018
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001004952.2
Allele description [Variation Report for NM_001130987.2(DYSF):c.3113del (p.Pro1038fs)]
NM_001130987.2(DYSF):c.3113del (p.Pro1038fs)
Condition(s)
-
Mus musculus wingless-type MMTV integration site family, member 7B (Wnt7b), tran...
Mus musculus wingless-type MMTV integration site family, member 7B (Wnt7b), transcript variant 1, mRNAgi|254692921|ref|NM_009528.3|Nucleotide
-
RecName: Full=Serine palmitoyltransferase 3; AltName: Full=Long chain base biosy...
RecName: Full=Serine palmitoyltransferase 3; AltName: Full=Long chain base biosynthesis protein 2b; Short=LCB2b; AltName: Full=Long chain base biosynthesis protein 3; Short=LCB 3; AltName: Full=Serine-palmitoyl-CoA transferase 3; Short=SPT 3gi|158931158|sp|Q9NUV7.3|SPTC3_HUMAProtein
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See more...Assertion and evidence details
Last Updated: Mar 30, 2024