Full data view for gene TMEM240

Information The variants shown are described using the NM_001114748.1 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
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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.509C>T r.(?) p.(Pro170Leu) Unknown - pathogenic g.1470752G>A g.1535372G>A - - TMEM240_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.509C>T r.(?) p.(Pro170Leu) Unknown - likely pathogenic g.1470752G>A g.1535372G>A - - TMEM240_000005 - - - - Unknown - - - 0 - DNA SEQ - - ? - - - F - (Germany) - - 0 - - 1 IMGAG
+?/. - c.509C>T r.(?) p.(Pro170Leu) Unknown ACMG likely pathogenic (dominant) g.1470752G>A - - - TMEM240_000005 ACMG: PS4, PM1, PM2_SUP, PP1 PMID: 25070513; PMID: 11160961 VCV000161192.9 - Germline ? - - - - DNA SEQ-NG-I - - SCA-21 178612 - - M ? Germany - - 0 - - 1 Andreas Laner
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