Full data view for gene TMEM27

Information The variants shown are described using the NM_020665.4 transcript reference sequence.

5 entries on 1 page. Showing entries 1 - 5.
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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.118-78_118-77del r.(=) p.(=) Unknown - VUS g.15677314_15677315del g.15659191_15659192del - - TMEM27_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.118-76_118-75del r.(=) p.(=) Unknown - VUS g.15677300_15677301del g.15659177_15659178del - - TMEM27_000003 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
-?/. - c.188A>C r.(?) p.(Asn63Thr) Unknown - likely benign g.15677154T>G g.15659031T>G TMEM27(NM_020665.4):c.188A>C (p.(Asn63Thr)) - TMEM27_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.589C>T r.(?) p.(Pro197Ser) Parent #1 - VUS g.15646174G>A g.15628051G>A - - TMEM27_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.618G>A r.(?) p.(Gly206=) Unknown - likely benign g.15646145C>T - CLTRN(NM_020665.5):c.618G>A (p.G206=) - TMEM27_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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