NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn) AND Niemann-Pick disease, type A
- Germline classification:
- Uncertain significance (1 submission)
- Last evaluated:
- Jul 22, 2021
- Review status:
- Somatic classification
of clinical impact: - None
- Review status:
- Somatic classification
of oncogenicity: - None
- Review status:
- Record status:
- current
- Accession:
- RCV001579135.2
Allele description [Variation Report for NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn)]
NM_000543.5(SMPD1):c.1810G>A (p.Asp604Asn)
Condition(s)
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uridine-cytidine kinase-like 1 isoform X18 [Homo sapiens]
uridine-cytidine kinase-like 1 isoform X18 [Homo sapiens]gi|2217335418|ref|XP_047296195.1|Protein
-
Mus musculus adult male testis cDNA, RIKEN full-length enriched library, clone:4...
Mus musculus adult male testis cDNA, RIKEN full-length enriched library, clone:4921519G19 product:unclassifiable, full insert sequencegi|12853046|dbj|AK014924.1|Nucleotide
-
Homo sapiens uridine-cytidine kinase 1 like 1 (UCKL1), transcript variant 14, no...
Homo sapiens uridine-cytidine kinase 1 like 1 (UCKL1), transcript variant 14, non-coding RNAgi|1676452765|ref|NR_148436.2|Nucleotide
-
Streptococcus pyogenes strain emm64.3 chromosome, complete genome
Streptococcus pyogenes strain emm64.3 chromosome, complete genomegi|1723347230|ref|NZ_CP035435.1|Nucleotide
-
Staphylococcus aureus strain SR130 chromosome, complete genome
Staphylococcus aureus strain SR130 chromosome, complete genomegi|2036914417|ref|NZ_CP047924.1|Nucleotide
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See more...Assertion and evidence details
Last Updated: Dec 24, 2023