Variant #0000001639 (NC_000009.11:g.94830377A>T, SPTLC1(NM_006415.3):c.431T>A)

Individual ID 00001639
Chromosome 9
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.94830377A>T
Reference Dawkins JL1, Hulme DJ, Brahmbhatt SB, Auer-Grumbach M, Nicholson GA.(2001)
DB-ID SPTLC1_000003
Frequency -
Average frequency (gnomAD v.2.1.1) 1.0E-5 View details
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
SPTLC1 NM_006415.3 ./. 6 c.431T>A r.(?) p.(Val144Asp) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000001639 ? ? SPTLC1 1 Y Yang