Full data view for gene SLC4A10

Information The variants shown are described using the NM_001178015.1 transcript reference sequence.

31 entries on 1 page. Showing entries 1 - 31.
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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.49-62142T>C r.(=) p.(=) Unknown - VUS g.162565341T>C g.161708831T>C - - SLC4A10_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.49-62142T>C r.? p.? Both (homozygous) - pathogenic (recessive) g.162565341T>C g.161708831T>C NM_001178016.1:c.81+2T>C r.(82_163del) - SLC4A10_000001 ACMG PP1, PM2,PVS1, PS3; effect on splicing predicted from mini-gene splicing assay PubMed: Maroofian 2024 - rs533392244 Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5Pat9 PubMed: Maroofian 2024 2-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Iran Balooch - - - - 2 Johan den Dunnen
+/. - c.49-62142T>C r.? p.? Both (homozygous) - pathogenic (recessive) g.162565341T>C g.161708831T>C NM_001178016.1:c.81+2T>C r.(82_163del) - SLC4A10_000001 ACMG PP1, PM2,PVS1, PS3; effect on splicing predicted from mini-gene splicing assay PubMed: Maroofian 2024 - rs533392244 Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam5Pat10 PubMed: Maroofian 2024 brother M yes Iran Balooch - - - - 1 Johan den Dunnen
+/. 4i_11i c.416+6182_1341+1167del r.(417_1341del) p.(Trp140ArgfsTer39) Both (homozygous) - pathogenic (recessive) g.162702619_162752502del g.161846109_161895992del del ex5-11 - SLC4A10_000006 - PubMed: Fasham 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS NDD Fam1PatIII1 PubMed: Fasham 2023 3-generation family, 2 affected brothers, unaffected heterozygous carrier first-cousin parents M yes United Kingdom (Great Britain) Palestine - - - - 2 Johan den Dunnen
+/. 4i_11i c.416+6182_1341+1167del r.(417_1341del) p.(Trp140ArgfsTer39) Both (homozygous) - pathogenic (recessive) g.162702619_162752502del g.161846109_161895992del del ex5-11 - SLC4A10_000006 - PubMed: Fasham 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS NDD Fam1PatIII2 PubMed: Fasham 2023 brother M yes United Kingdom (Great Britain) Palestine - - - - 1 Johan den Dunnen
+?/. - c.667C>T r.(?) p.(His223Tyr) Both (homozygous) - likely pathogenic (recessive) g.162719473C>T g.161862963C>T - - SLC4A10_000007 ACMG PP1, PP2, PP3, PM2, PS3 PubMed: Maroofian 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat7 PubMed: Maroofian 2024 2-generation family, 2affected sisters unaffected heterozygous carrier parents F yes Iran Balooch - - - - 2 Johan den Dunnen
+?/. - c.667C>T r.(?) p.(His223Tyr) Both (homozygous) - likely pathogenic (recessive) g.162719473C>T g.161862963C>T - - SLC4A10_000007 ACMG PP1, PP2, PP3, PM2, PS3 PubMed: Maroofian 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4Pat8 PubMed: Maroofian 2024 sister F yes Iran Balooch - - - - 1 Johan den Dunnen
?/. - c.768A>G r.(?) p.(=) Unknown - VUS g.162728804A>G - SLC4A10(NM_001354444.2):c.767-2A>G - SLC4A10_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1052G>C r.(?) p.(Arg351Thr) Paternal (inferred) - pathogenic (recessive) g.162735744G>C g.161879234G>C - - SLC4A10_000008 ACMG PP2, PP3, PS2, PM2, PS3 PubMed: Maroofian 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam2Pat3 PubMed: Maroofian 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States Europe - - - - 1 Johan den Dunnen
?/. - c.1612C>T r.(?) p.(Arg538Cys) Paternal (confirmed) - VUS g.162760683C>T g.161904173C>T - - SLC4A10_000009 ACMG PP2, PP3, PM2 PubMed: Maroofian 2024 - rs751709773 Germline - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Fam6Pat11 PubMed: Maroofian 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
?/. - c.1730A>T r.(?) p.(Lys577Met) Unknown - VUS g.162761398A>T g.161904888A>T SLC4A10(NM_001178016.1):c.1673A>T (p.K558M) - SLC4A10_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1730A>T r.(?) p.(Lys577Met) Both (homozygous) - likely pathogenic (recessive) g.162761398A>T g.161904888A>T [1730A>T;3308A>T] - SLC4A10_000002 - PubMed: Fasham 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Fam5PatII1 PubMed: Fasham 2023 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Johan den Dunnen
+?/. - c.1730A>T r.(?) p.(Lys577Met) Both (homozygous) - likely pathogenic (recessive) g.162761398A>T g.161904888A>T [1730A>T;3308A>T] - SLC4A10_000002 - PubMed: Fasham 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Fam5PatII2 PubMed: Fasham 2023 brother M yes Turkey - - - - - 1 Johan den Dunnen
?/. - c.1761G>A r.(?) p.(=) Unknown - VUS g.162762161G>A - SLC4A10(NM_001178015.2):c.1761G>A (p.(Gly587=)) - SLC4A10_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1864C>T r.(?) p.(Arg622Trp) Maternal (confirmed) - likely pathogenic (recessive) g.162762264C>T g.161905754C>T - - SLC4A10_000010 ACMG PP2, PP3, PM2, PS3 PubMed: Maroofian 2024 - rs370148354 Germline - - - - - DNA SEQ, SEQ-NG - trio WES NDD Fam2Pat3 PubMed: Maroofian 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F no United States Europe - - - - 1 Johan den Dunnen
?/. - c.2118G>T r.(?) p.(Leu706Phe) Maternal (confirmed) - VUS g.162804090G>T g.161947580G>T - - SLC4A10_000011 ACMG PP2, PM2 PubMed: Maroofian 2024 - rs369971543 Germline - - - - - DNA SEQ, SEQ-NG - trio WGS NDD Fam6Pat11 PubMed: Maroofian 2024 2-generation family, 1 affected, unaffected heterozygous carrier parents F no - - - - - - 1 Johan den Dunnen
+?/. - c.2162A>G r.(?) p.(Tyr721Cys) Both (homozygous) - likely pathogenic (recessive) g.162804134A>G g.161947624A>G - - SLC4A10_000012 ACMG PP1, PP2, PP3, PM2, PS3 PubMed: Maroofian 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat4 PubMed: Maroofian 2024 2-generation family, sister/3 brothers affected, unaffected heterozygous carrier parents F yes Iran - - - - - 3 Johan den Dunnen
+?/. - c.2162A>G r.(?) p.(Tyr721Cys) Both (homozygous) - likely pathogenic (recessive) g.162804134A>G g.161947624A>G - - SLC4A10_000012 ACMG PP1, PP2, PP3, PM2, PS3 PubMed: Maroofian 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat5 PubMed: Maroofian 2024 brother M yes Iran - - - - - 1 Johan den Dunnen
+?/. - c.2162A>G r.(?) p.(Tyr721Cys) Both (homozygous) - likely pathogenic (recessive) g.162804134A>G g.161947624A>G - - SLC4A10_000012 ACMG PP1, PP2, PP3, PM2, PS3 PubMed: Maroofian 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam3Pat6 PubMed: Maroofian 2024 brother M yes Iran - - - - - 1 Johan den Dunnen
+/. - c.2269C>T r.(?) p.(Arg757Ter) Both (homozygous) - pathogenic (recessive) g.162805661C>T g.161949151C>T - - SLC4A10_000013 - PubMed: Fasham 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Fam2PatII1 PubMed: Fasham 2023 2-generation family, 1 affected, unaffected heterozygous carrier parents M no Austria - - - - - 1 Johan den Dunnen
-?/. - c.2411C>A r.(?) p.(Thr804Lys) Unknown - likely benign g.162807228C>A - SLC4A10(NM_001354461.1):c.2447C>A (p.T816K) - SLC4A10_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2619G>A r.(?) p.(Trp873Ter) Both (homozygous) - pathogenic (recessive) g.162813576G>A g.161957066G>A - - SLC4A10_000014 - PubMed: Fasham 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatIII2 PubMed: Fasham 2023 3-generation family, 3 affected (F, 2M), unaffected heterozygous carrie parents M yes Egypt - - - - - 3 Johan den Dunnen
+/. - c.2619G>A r.(?) p.(Trp873Ter) Both (homozygous) - pathogenic (recessive) g.162813576G>A g.161957066G>A - - SLC4A10_000014 - PubMed: Fasham 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatIII3 PubMed: Fasham 2023 brother M yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.2619G>A r.(?) p.(Trp873Ter) Both (homozygous) - pathogenic (recessive) g.162813576G>A g.161957066G>A - - SLC4A10_000014 - PubMed: Fasham 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NDD Fam4PatIII5 PubMed: Fasham 2023 female double first cousin F yes Egypt - - - - - 1 Johan den Dunnen
+/. - c.2863-2A>C r.[2772_2773ins2772+1_2772+175;2773_2781del] p.Gln954_Phe955insTer13 Both (homozygous) - pathogenic (recessive) g.162820643A>C g.161964133A>C - - SLC4A10_000015 - PubMed: Fasham 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES trio NDD Fam3PatII2 PubMed: Fasham 2023 2-generation family, 2 affected sisters, unaffected heterozygous carrier parents F - Saudi Arabia - - - - - 2 Johan den Dunnen
+/. - c.2863-2A>C r.[2772_2773ins2772+1_2772+175;2773_2781del] p.Gln954_Phe955insTer13 Both (homozygous) - pathogenic (recessive) g.162820643A>C g.161964133A>C - - SLC4A10_000015 - PubMed: Fasham 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES trio NDD Fam3PatII3 PubMed: Fasham 2023 sister F - Saudi Arabia - - - - - 1 Johan den Dunnen
+?/. - c.2894C>T r.(?) p.(Pro965Leu) Both (homozygous) - likely pathogenic (recessive) g.162820676C>T g.161964166C>T - - SLC4A10_000016 ACMG PP1, PP2, PP3, PM2, PS3 PubMed: Maroofian 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - quad WES NDD Fam1Pat1 PubMed: Maroofian 2024 2-generation family, affected sister/brother, unaffected heterozygous carrier parents M yes Iraq - - - - - 2 Johan den Dunnen
+?/. - c.2894C>T r.(?) p.(Pro965Leu) Both (homozygous) - likely pathogenic (recessive) g.162820676C>T g.161964166C>T - - SLC4A10_000016 ACMG PP1, PP2, PP3, PM2, PS3 PubMed: Maroofian 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - quad WES NDD Fam1Pat2 PubMed: Maroofian 2024 brother F yes Iraq - - - - - 1 Johan den Dunnen
?/. - c.3308A>T r.(?) p.(Asn1103Ile) Unknown - VUS g.162833350A>T g.161976840A>T SLC4A10(NM_001178016.1):c.3251A>T (p.N1084I) - SLC4A10_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3308A>T r.(?) p.(Asn1103Ile) Both (homozygous) - VUS g.162833350A>T g.161976840A>T [1730A>T;3308A>T] - SLC4A10_000003 - PubMed: Fasham 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Fam5PatII1 PubMed: Fasham 2023 3-generation family, affected sister/brother, unaffected heterozygous carrier parents F yes Turkey - - - - - 2 Johan den Dunnen
?/. - c.3308A>T r.(?) p.(Asn1103Ile) Both (homozygous) - VUS g.162833350A>T g.161976840A>T [1730A>T;3308A>T] - SLC4A10_000003 - PubMed: Fasham 2023 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Fam5PatII2 PubMed: Fasham 2023 brother M yes Turkey - - - - - 1 Johan den Dunnen
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