NM_000543.5(SMPD1):c.1101dup (p.Phe368fs) AND Niemann-Pick disease, type A
- Germline classification:
- Pathogenic/Likely pathogenic (2 submissions)
- Last evaluated:
- Mar 11, 2024
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV000668954.2
Allele description [Variation Report for NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)]
NM_000543.5(SMPD1):c.1101dup (p.Phe368fs)
Condition(s)
-
Mus musculus dynamin 1-like (Dnm1l), transcript variant 11, mRNA
Mus musculus dynamin 1-like (Dnm1l), transcript variant 11, mRNAgi|2228568576|ref|NM_001405253.1|Nucleotide
-
Mus musculus dynamin 1-like (Dnm1l), transcript variant 13, mRNA
Mus musculus dynamin 1-like (Dnm1l), transcript variant 13, mRNAgi|2228568594|ref|NM_001405255.1|Nucleotide
-
dynamin-1-like protein isoform h [Mus musculus]
dynamin-1-like protein isoform h [Mus musculus]gi|1334575532|ref|NP_001346939.1|Protein
-
Mus musculus dynamin 1-like (Dnm1l), transcript variant 4, mRNA
Mus musculus dynamin 1-like (Dnm1l), transcript variant 4, mRNAgi|2228568546|ref|NM_001276341.2|Nucleotide
-
Hipposideros ater isolate 6M cytochrome b (cytb) gene, partial cds; mitochondria...
Hipposideros ater isolate 6M cytochrome b (cytb) gene, partial cds; mitochondrialgi|2329595766|gb|OL855930.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Jun 17, 2024