All transcript variants in gene AAMP

Information The variants shown are described using the NM_001087.3 transcript reference sequence.

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

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
-?/. - c.-2643C>T likely benign r.(?) p.(=) g.219137452G>A - PNKD(NM_001077399.2):c.396G>A (p.P132=) - PNKD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.-2643C>T benign r.(?) p.(=) g.219137452G>A - PNKD(NM_001077399.2):c.396G>A (p.P132=) - PNKD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.-1325G>T likely pathogenic r.(?) p.(=) g.219136134C>A - - - PNKD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
-?/. - c.-506G>A likely benign r.(?) p.(=) g.219135315C>T - PNKD(NM_015488.4):c.57C>T (p.R19=) - PNKD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.-465C>T VUS r.(?) p.(=) g.219135274G>A - PNKD(NM_015488.4):c.16G>A (p.A6T) - AAMP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. - c.764-7A>G likely benign r.(=) p.(=) g.219130676T>C - AAMP(NM_001087.3):c.764-7A>G (p.(=)) - AAMP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. - c.*1207C>T VUS r.(=) p.(=) g.219128049G>A - GPBAR1(NM_001077191.1):c.602G>A (p.(Arg201Gln)) - GPBAR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
?/. - c.*1351G>A VUS r.(=) p.(=) g.219127905C>T - GPBAR1(NM_001077191.1):c.458C>T (p.(Ala153Val)) - GPBAR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
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