All variants in the SLC9A7 gene

Information The variants shown are described using the NM_032591.2 transcript reference sequence.

20 entries on 1 page. Showing entries 1 - 20.
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Effect     

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     
-?/. - c.73_87del r.(?) p.(Leu25_Leu29del) - likely benign g.46618388_46618402del - SLC9A7(NM_032591.2):c.73_87delCTGCCGCTGCTGCTG (p.L25_L29del) - SLC9A7_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.146A>C r.(?) p.(Glu49Ala) - likely benign g.46618319T>G - SLC9A7(NM_032591.2):c.146A>C (p.E49A) - SLC9A7_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.455A>G r.(?) p.(Glu152Gly) - VUS g.46541841T>C g.46682406T>C - - SLC9A7_000008 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.706C>T r.(?) p.(Leu236Phe) - VUS g.46529129G>A - SLC9A7(NM_032591.2):c.706C>T (p.L236F) - SLC9A7_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.899+1G>A r.spl? p.? - VUS g.46521972C>T g.46662537C>T SLC9A7(NM_001257291.2):c.899+1G>A - SLC9A7_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.1092C>G r.(?) p.(Phe364Leu) - VUS g.46513096G>C g.46653661G>C - - SLC9A7_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
?/. - c.1092C>G r.(?) p.(Phe364Leu) - VUS g.46513096G>C - SLC9A7(NM_032591.2):c.1092C>G (p.F364L) - SLC9A7_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1152A>G r.(?) p.(Val384=) - likely benign g.46510832T>C - SLC9A7(NM_032591.2):c.1152A>G (p.V384=) - SLC9A7_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1374G>A r.(?) p.(Ala458=) - likely benign g.46508206C>T - SLC9A7(NM_032591.3):c.1374G>A (p.A458=) - SLC9A7_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. - c.1543C>T r.(?) p.(Leu515Phe) - pathogenic (recessive) g.46502741G>A g.46643306G>A - - SLC9A7_000010 - PubMed: Khayat 20219, Journal: Khayat 2019 - - Germline yes - - 0 - Joaquin De La Torre Vela
+/. - c.1543C>T r.(?) p.(Leu515Phe) - pathogenic (recessive) g.46502741G>A g.46643306G>A - - SLC9A7_000010 - PubMed: Khayat 20219, Journal: Khayat 2019 - - Germline yes - - 0 - Joaquin De La Torre Vela
+/. - c.1543C>T r.(?) p.(Leu515Phe) - pathogenic (recessive) g.46502741G>A g.46643306G>A - - SLC9A7_000010 - PubMed: Khayat 20219, Journal: Khayat 2019 - - Germline yes - - 0 - Joaquin De La Torre Vela
+/. - c.1543C>T r.(?) p.(Leu515Phe) - pathogenic (recessive) g.46502741G>A g.46643306G>A - - SLC9A7_000010 - PubMed: Khayat 20219, Journal: Khayat 2019 - - Germline yes - - 0 - Joaquin De La Torre Vela
+/. - c.1543C>T r.(?) p.(Leu515Phe) - pathogenic (recessive) g.46502741G>A g.46643306G>A - - SLC9A7_000010 - PubMed: Khayat 20219, Journal: Khayat 2019 - - Germline yes - - 0 - Joaquin De La Torre Vela
+/. X c.1543C>T r.(?) p.(Leu515Phe) - pathogenic (recessive) g.46502741G>A g.46643306G>A - - SLC9A7_000010 - PubMed: Khayat 20219, Journal: Khayat 2019 - - Germline yes - - 0 - Joaquin De La Torre Vela
-?/. - c.1600T>C r.(?) p.(Trp534Arg) - likely benign g.46502684A>G - SLC9A7(NM_032591.2):c.1600T>C (p.W534R) - SLC9A7_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1740C>T r.(?) p.(Asp580=) - VUS g.46480492G>A g.46621057G>A SLC9A7(NM_001257291.1):c.1743C>T (p.(=)) - SLC9A7_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1740C>T r.(=) p.(=) - likely benign g.46480492G>A g.46621057G>A D580D - SLC9A7_000001 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
-?/. - c.1824C>T r.(=) p.(=) - likely benign g.46472826G>A g.46613391G>A Y608Y - SLC9A7_000006 recurrent, found 93 times PubMed: Tarpey 2009 - - Germline - 93/208 cases - 0 - Lucy Raymond
?/. - c.2084C>T r.(?) p.(Ser695Leu) - VUS g.46466481G>A - SLC9A7(NM_032591.2):c.2084C>T (p.S695L) - SLC9A7_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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