Full data view for gene MBNL3

Information The variants shown are described using the NM_018388.3 transcript reference sequence.

8 entries on 1 page. Showing entries 1 - 8.
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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.89G>A r.(?) p.(Arg30Gln) Unknown - VUS g.131573551C>T g.132439523C>T MBNL3(NM_018388.3):c.89G>A (p.R30Q) - MBNL3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.297C>T r.(?) p.(Ala99=) Unknown - likely benign g.131540301G>A - MBNL3(NM_001170704.1):c.9C>T (p.A3=) - MBNL3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.364T>G r.(?) p.(Ser122Ala) Parent #1 - VUS g.131526341A>C g.132392313A>C S122A - MBNL3_000001 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.364T>G r.(?) p.(Ser122Ala) Unknown - likely benign g.131526341A>C g.132392313A>C MBNL3(NM_001170701.1):c.214T>G (p.(Ser72Ala)) - MBNL3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.772-6C>G r.(=) p.(=) Unknown - likely benign g.131520845G>C g.132386817G>C MBNL3(NM_001170701.1):c.622-6C>G (p.(=)) - MBNL3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1031C>T r.(?) p.(Ala344Val) Unknown - likely benign g.131516228G>A - MBNL3(NM_001170704.1):c.743C>T (p.A248V) - MBNL3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*162615A>G r.(=) p.(=) Unknown - VUS g.131351079T>C g.132217051T>C RAP2C(NM_001271186.2):c.218A>G (p.K73R) - MBNL3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*165383C>T r.(=) p.(=) Unknown - VUS g.131348311G>A g.132214283G>A RAP2C(NM_001271186.1):c.437C>T (p.(Ser146Leu)) - RAP2C_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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