Full data view for gene SLC9A1

Information The variants shown are described using the NM_003047.4 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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.226C>T r.(?) p.(His76Tyr) Unknown - likely benign g.27480600G>A g.27154109G>A SLC9A1(NM_003047.5):c.226C>T (p.H76Y) - SLC9A1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.342C>T r.(?) p.(Leu114=) Unknown - likely benign g.27480484G>A - SLC9A1(NM_003047.4):c.342C>T (p.L114=) - SLC9A1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.353-5C>T r.spl? p.? Unknown - likely benign g.27440782G>A - SLC9A1(NM_003047.4):c.353-5C>T - SLC9A1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.600C>T r.(?) p.(Asn200=) Unknown - likely benign g.27440530G>A g.27114039G>A SLC9A1(NM_003047.4):c.600C>T (p.N200=) - SLC9A1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.627C>T r.(?) p.(Tyr209=) Unknown - likely benign g.27440503G>A - SLC9A1(NM_003047.4):c.627C>T (p.Y209=) - SLC9A1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.630C>T r.(?) p.(Ala210=) Unknown - likely benign g.27440500G>A - SLC9A1(NM_003047.4):c.630C>T (p.A210=), SLC9A1(NM_003047.5):c.630C>T (p.(Ala210=)) - SLC9A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.630C>T r.(?) p.(Ala210=) Unknown - likely benign g.27440500G>A - SLC9A1(NM_003047.4):c.630C>T (p.A210=), SLC9A1(NM_003047.5):c.630C>T (p.(Ala210=)) - SLC9A1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.640G>A r.(?) p.(Val214Met) Unknown - likely benign g.27440490C>T - SLC9A1(NM_003047.4):c.640G>A (p.V214M) - SLC9A1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.705G>A r.(?) p.(Ser235=) Unknown - likely benign g.27440425C>T g.27113934C>T SLC9A1(NM_003047.4):c.705G>A (p.S235=) - SLC9A1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.913G>A r.(?) p.(Gly305Arg) Both (homozygous) - pathogenic g.27436169C>T g.27109678C>T - - SLC9A1_000001 homozygosity mapping, whole exome sequencing PubMed: Guissart 2014 - - Germline yes - - - - DNA SEQ, SEQ-NG - - Lichtenstein–Knorr syndrome - PubMed: Guissart 2014 4-generation family, 3 affecteds (2F, M), unaffected heterozygous carrier parents - yes Turkey - - - - - 3 Johan den Dunnen
-?/. - c.919C>T r.(?) p.(Leu307Phe) Unknown - likely benign g.27436163G>A g.27109672G>A SLC9A1(NM_003047.4):c.919C>T (p.L307F) - SLC9A1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.938G>A r.(?) p.(Gly313Glu) Both (homozygous) ACMG VUS g.27436144C>T g.27109653C>T - - SLC9A1_000023 ACMG PM2, PP3 PubMed: Maddirevula 2019 - - Germline - - - - - DNA SEQ-NG - WES ? 17-1731 PubMed: Maddirevula 2019 - F - - - - - - - 1 Johan den Dunnen
?/. - c.1240G>A r.(?) p.(Val414Ile) Unknown - VUS g.27434181C>T g.27107690C>T SLC9A1(NM_003047.4):c.1240G>A (p.V414I) - SLC9A1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 4 c.1275C>T r.(=) p.(Arg425=) Unknown - VUS g.27434146G>A g.27107655G>A - - SLC9A1_000004 not causative for phenotype PubMed: Guissart 2014 - rs370187243 Unknown - 1/172 cases - - - DNA SEQ - - ? - PubMed: Guissart 2014 - - - France - - - - - 172 Johan den Dunnen
-?/. - c.1356C>T r.(?) p.(Ile452=) Unknown - likely benign g.27432505G>A g.27106014G>A SLC9A1(NM_003047.4):c.1356C>T (p.I452=), SLC9A1(NM_003047.5):c.1356C>T (p.I452=) - SLC9A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1356C>T r.(?) p.(Ile452=) Unknown - likely benign g.27432505G>A g.27106014G>A SLC9A1(NM_003047.4):c.1356C>T (p.I452=), SLC9A1(NM_003047.5):c.1356C>T (p.I452=) - SLC9A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1356C>T r.(?) p.(Ile452=) Unknown - likely benign g.27432505G>A g.27106014G>A SLC9A1(NM_003047.4):c.1356C>T (p.I452=), SLC9A1(NM_003047.5):c.1356C>T (p.I452=) - SLC9A1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1391C>T r.(?) p.(Ser464Phe) Unknown - VUS g.27432470G>A g.27105979G>A - - SLC9A1_000025 - PubMed: Zhu 2015 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES ? Trio48 PubMed: Zhu 2015 - F - United States - - - - - 1 Johan den Dunnen
-?/. - c.1392T>G r.(?) p.(Ser464=) Unknown - likely benign g.27432469A>C - SLC9A1(NM_003047.4):c.1392T>G (p.S464=) - SLC9A1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1486-4C>G r.spl? p.? Unknown - likely benign g.27429807G>C g.27103316G>C SLC9A1(NM_003047.5):c.1486-4C>G - SLC9A1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1486-3dup r.spl? p.? Unknown - likely benign g.27429811dup - SLC9A1(NM_003047.4):c.1486-3dupC (p.?) - SLC9A1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1585C>T r.(?) p.(His529Tyr) Unknown - VUS g.27429225G>A g.27102734G>A SLC9A1(NM_003047.4):c.1585C>T (p.(His529Tyr)) - SLC9A1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1647-9_1647-7dup r.(=) p.(=) Unknown - likely benign g.27429064_27429066dup - SLC9A1(NM_003047.4):c.1647-9_1647-7dupTCC - SLC9A1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1821G>A r.(?) p.(Gln607=) Unknown - likely benign g.27428621C>T g.27102130C>T SLC9A1(NM_003047.4):c.1821G>A (p.Q607=), SLC9A1(NM_003047.5):c.1821G>A (p.Q607=) - SLC9A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1821G>A r.(?) p.(Gln607=) Unknown - benign g.27428621C>T g.27102130C>T SLC9A1(NM_003047.4):c.1821G>A (p.Q607=), SLC9A1(NM_003047.5):c.1821G>A (p.Q607=) - SLC9A1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2037+19T>G r.(=) p.(=) Unknown - likely benign g.27428197A>C g.27101706A>C SLC9A1(NM_003047.5):c.2037+19T>G - SLC9A1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2136G>A r.(?) p.(Glu712=) Unknown - likely benign g.27427110C>T g.27100619C>T SLC9A1(NM_003047.4):c.2136G>A (p.E712=) - SLC9A1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2163G>A r.(?) p.(Pro721=) Unknown - likely benign g.27427083C>T g.27100592C>T SLC9A1(NM_003047.4):c.2163G>A (p.P721=) - SLC9A1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2275G>A r.(?) p.(Asp759Asn) Unknown - likely benign g.27426971C>T g.27100480C>T SLC9A1(NM_003047.4):c.2275G>A (p.D759N) - SLC9A1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.2323G>C r.(?) p.(Asp775His) Unknown - VUS g.27426923C>G g.27100432C>G - - SLC9A1_000003 heterozygous, not causative for phenotype PubMed: Guissart 2014 - - Unknown - 1/172 cases - - - DNA SEQ - - ? - PubMed: Guissart 2014 - - - France - - - - - 172 Johan den Dunnen
-?/. - c.2328T>C r.(?) p.(Asp776=) Unknown - likely benign g.27426918A>G g.27100427A>G SLC9A1(NM_003047.4):c.2328T>C (p.D776=) - SLC9A1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2393C>G r.(?) p.(Pro798Arg) Unknown - VUS g.27426853G>C - SLC9A1(NM_003047.4):c.2393C>G (p.P798R) - SLC9A1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 12 c.2426C>T r.(?) p.(Pro809Leu) Unknown - VUS g.27426820G>A g.27100329G>A - - SLC9A1_000002 heterozygous, not causative for phenotype PubMed: Guissart 2014 - rs144794319 Unknown - 1/172 cases - - - DNA SEQ - - ? - PubMed: Guissart 2014 - - - France - - - - - 172 Johan den Dunnen
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