Unique variants in the ASL gene

Information The variants shown are described using the NM_000048.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

Published as     

RNA change     

Protein     

GVS function     

Clinical classification     

DNA change (genomic) (hg38)     

Published as     

Reference     

DB-ID     

dbSNP ID     

Frequency     

Variant remarks     

Owner     
?/. 1 5 c.436C>G - r.(?) p.(Arg146Gly) - ClinVar g.66083164C>G - Ernie Zuraida Ali et al. (2019)dbSNPClinVar ASL_000004 rs1007569346 1/8 - Nuur Athirah Binti Mohd Daud
+/. 1 5 c.436C>T - r.(?) p.(Arg146Trp) - - g.66083164C>T - Ernie Zuraida Ali et al. (2019), ClinVar ASL_000002 - 1/8 - Nuur Athirah Binti Mohd Daud
?/. 2 7 c.556C>T - r.(?) p.(Arg186Trp) - ClinVar g.66086775C>T - Ernie Zuraida Ali et al. (2019)dbSNPClinVar, Ernie Zuraida Ali et al. (2019),dbSNP,ClinVar ASL_000005 rs369512467 1/8, 2/5 - Nuur Athirah Binti Mohd Daud
./. 1 7 c.578G>A - r.(?) p.(Arg193Gln) - ClinVar g.66086797G>A - Ernie Zuraida Ali et al. (2019), dbSNP, ClinVar ASL_000007 rs373697663 1/5 - Nuur Athirah Binti Mohd Daud
+/. 1 7 c.595C>G - r.(?) p.(Leu199Val) - ClinVar g.66086814C>G - Ernie Zuraida Ali et al. (2019)dbSNPClinVar ASL_000006 rs77632964 1/8 - Nuur Athirah Binti Mohd Daud
?/. 2 8 c.638G>A - r.(?) p.(Arg213Gln) - ClinVar g.66087369G>A - Ernie Zuraida Ali et al. (2019), dbSNP, ClinVar ASL_000001 rs1449589636 3/8, 1/5 - Nuur Athirah Binti Mohd Daud
+/. 1 10 c.778C>T - r.(?) p.(Leu260Phe) - ClinVar g.66088866C>T - Ernie Zuraida Ali et al. (2019)ClinVar ASL_000008 - 1/5 - Nuur Athirah Binti Mohd Daud
+/. 1 15 c.1340G>C - r.(?) p.(Ser447Thr) - - g.66092857G>C - Ernie Zuraida Ali et al. (2019) ASL_000003 rs1465993279 1/8 - Nuur Athirah Binti Mohd Daud
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