Full data view for gene PNMA3

Information The variants shown are described using the NM_013364.4 transcript reference sequence.

21 entries on 1 page. Showing entries 1 - 21.
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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.377C>T r.(?) p.(Ser126Leu) Unknown - likely benign g.152225789C>T g.153057432C>T PNMA3(NM_013364.5):c.377C>T (p.(Ser126Leu)) - PNMA3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.477G>A r.(?) p.(Met159Ile) Unknown - likely benign g.152225889G>A - PNMA3(NM_013364.5):c.477G>A (p.M159I) - PNMA3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.487G>A r.(?) p.(Glu163Lys) Unknown - likely benign g.152225899G>A g.153057542G>A PNMA3(NM_013364.5):c.487G>A (p.E163K) - PNMA3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.777G>A r.(=) p.(=) Parent #1 - likely benign g.152226189G>A g.153057832G>A E259E - PNMA3_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.850G>T r.(?) p.(Val284Leu) Unknown - likely benign g.152226262G>T g.153057905G>T PNMA3(NM_013364.5):c.850G>T (p.(Val284Leu)) - PNMA3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1130T>C r.(?) p.(Val377Ala) Maternal (inferred) - VUS g.152226542T>C g.153058185= - - PNMA3_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1130T>C r.(?) p.(Val377Ala) Maternal (inferred) - VUS g.152226542T>C g.153058185= - - PNMA3_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1130T>C r.(?) p.(Val377Ala) Parent #1 - VUS g.152226542T>C g.153058185= - - PNMA3_000009 recurrent, found 166 times PubMed: Tarpey 2009 - - Germline - 166/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 166 Lucy Raymond
?/. - c.1157G>A r.(?) p.(Arg386Gln) Unknown - VUS g.152226569G>A g.153058212G>A PNMA3(NM_013364.5):c.1157G>A (p.(Arg386Gln)) - PNMA3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1272G>C r.(?) p.(Arg424Ser) Unknown - likely benign g.152226684G>C - PNMA3(NM_013364.5):c.1272G>C (p.R424S) - PNMA3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1330G>A r.(?) p.(Val444Ile) Unknown - VUS g.152226742G>A g.153058385G>A PNMA3(NM_013364.5):c.1330G>A (p.(Val444Ile)) - PNMA3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1350C>G r.(?) p.(Asn450Lys) Unknown - likely benign g.152226762C>G g.153058405C>G PNMA3(NM_013364.5):c.1350C>G (p.N450K) - PNMA3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*64A>G r.(=) p.(=) Unknown - likely benign g.152226868A>G - PNMA3(NM_001282535.1):c.1335A>G (p.G445=) - PNMA3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1528A>G r.(=) p.(=) Maternal (inferred) - VUS g.152228332A>G g.153059972A>G - - PNMA3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*1528A>G r.(=) p.(=) Maternal (inferred) - VUS g.152228332A>G g.153059972A>G - - PNMA3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*1719T>C r.(=) p.(=) Maternal (inferred) - VUS g.152228523T>C g.153060163= - - PNMA3_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*1719T>C r.(=) p.(=) Maternal (inferred) - VUS g.152228523T>C g.153060163= - - PNMA3_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*1972C>T r.(=) p.(=) Maternal (inferred) - VUS g.152228776C>T g.153060416C>T - - PNMA3_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*1972C>T r.(=) p.(=) Maternal (inferred) - VUS g.152228776C>T g.153060416C>T - - PNMA3_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*1974T>G r.(=) p.(=) Maternal (inferred) - VUS g.152228778T>G g.153060418T>G - - PNMA3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*1974T>G r.(=) p.(=) Maternal (inferred) - VUS g.152228778T>G g.153060418T>G - - PNMA3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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