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Select item 557323841.

rs55732384 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 1:94111561 (GRCh38)
1:94577117 (GRCh37)
Canonical SPDI:: NC_000001.11:94111560:G:A,NC_000001.11:94111560:G:C,NC_000001.11:94111560:G:T
Gene:: ABCA4 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Clinical significance:: pathogenic-likely-pathogenic,likely-pathogenic,pathogenic
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000038/3 (ALFA)
A=0.000008/1 (ExAC)
A=0.00002/3 (GnomAD_genomes)
A=0.000034/9 (TOPMED)
HGVS:: NC_000001.11:g.94111561G>A, NC_000001.11:g.94111561G>C, NC_000001.11:g.94111561G>T, NC_000001.10:g.94577117G>A, NC_000001.10:g.94577117G>C, NC_000001.10:g.94577117G>T, NG_009073.2:g.14587C>T, NG_009073.2:g.14587C>G, NG_009073.2:g.14587C>A, NG_009073.1:g.14589C>T, NG_009073.1:g.14589C>G, NG_009073.1:g.14589C>A, NM_000350.3:c.179C>T, NM_000350.3:c.179C>G, NM_000350.3:c.179C>A, NM_000350.2:c.179C>T, NM_000350.2:c.179C>G, NM_000350.2:c.179C>A, NM_001425324.1:c.179C>T, NM_001425324.1:c.179C>G, NM_001425324.1:c.179C>A, XM_047416704.1:c.179C>T, XM_047416704.1:c.179C>G, XM_047416704.1:c.179C>A, NP_000341.2:p.Ala60Val, NP_000341.2:p.Ala60Gly, NP_000341.2:p.Ala60Glu, XP_047272660.1:p.Ala60Val, XP_047272660.1:p.Ala60Gly, XP_047272660.1:p.Ala60Glu

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