Full data view for gene AAMP

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

13 entries on 1 page. Showing entries 1 - 13.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-2643C>T r.(?) p.(=) Unknown - likely benign g.219137452G>A g.218272729G>A PNKD(NM_001077399.2):c.396G>A (p.P132=), PNKD(NM_001077399.3):c.396G>A (p.P132=) - PNKD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-2643C>T r.(?) p.(=) Unknown - benign g.219137452G>A g.218272729G>A PNKD(NM_001077399.2):c.396G>A (p.P132=), PNKD(NM_001077399.3):c.396G>A (p.P132=) - PNKD_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2642G>A r.(?) p.(=) Unknown - likely benign g.219137451C>T g.218272728C>T PNKD(NM_001077399.2):c.395C>T (p.P132L, p.(Pro132Leu)) - AAMP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2642G>A r.(?) p.(=) Unknown - likely benign g.219137451C>T - PNKD(NM_001077399.2):c.395C>T (p.P132L, p.(Pro132Leu)) - AAMP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-2609C>T r.(?) p.(=) Unknown - VUS g.219137418G>A - PNKD(NM_001077399.2):c.362G>A (p.S121N) - AAMP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-2532C>T r.(?) p.(=) Unknown - likely benign g.219137341G>A - PNKD(NM_001077399.2):c.285G>A (p.R95=) - AAMP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-1325G>T r.(?) p.(=) Unknown - likely pathogenic g.219136134C>A g.218271411C>A - - PNKD_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-506G>A r.(?) p.(=) Unknown - likely benign g.219135315C>T g.218270592C>T PNKD(NM_015488.4):c.57C>T (p.R19=) - PNKD_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-475G>A r.(?) p.(=) Unknown - likely pathogenic g.219135284C>T - - - AAMP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-465C>T r.(?) p.(=) Unknown - VUS g.219135274G>A g.218270551G>A PNKD(NM_015488.4):c.16G>A (p.A6T) - AAMP_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.764-7A>G r.(=) p.(=) Unknown - likely benign g.219130676T>C g.218265953T>C AAMP(NM_001087.3):c.764-7A>G (p.(=)) - AAMP_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1207C>T r.(=) p.(=) Unknown - VUS g.219128049G>A g.218263326G>A GPBAR1(NM_001077191.1):c.602G>A (p.(Arg201Gln)) - GPBAR1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1351G>A r.(=) p.(=) Unknown - VUS g.219127905C>T g.218263182C>T GPBAR1(NM_001077191.1):c.458C>T (p.(Ala153Val)) - GPBAR1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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