Unique variants in the TMEM27 gene

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     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
?/. 1 - c.118-78_118-77del r.(=) p.(=) - VUS g.15677314_15677315del g.15659191_15659192del - - TMEM27_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.118-76_118-75del r.(=) p.(=) - VUS g.15677300_15677301del g.15659177_15659178del - - TMEM27_000003 - - - - Germline - - - - - Yu Sun
-?/. 1 - c.188A>C r.(?) p.(Asn63Thr) - 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 - - - - - VKGL-NL_Leiden
?/. 1 - c.589C>T r.(?) p.(Pro197Ser) - VUS g.15646174G>A g.15628051G>A - - TMEM27_000005 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. 1 - c.618G>A r.(?) p.(Gly206=) - likely benign g.15646145C>T - CLTRN(NM_020665.5):c.618G>A (p.G206=) - TMEM27_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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