Full data view for gene SLC17A5

Information The variants shown are described using the NM_012434.4 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
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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     

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Age at death     

VIP     

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Owner     
./. - c.-2451640_*595735del r.0? p.0? Maternal (confirmed) - pathogenic g.73709065_76815249del - - - KHDC3L_000005 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
-/. - c.-174dup r.(?) p.(=) Unknown - benign g.74363787dup g.73654064dup SLC17A5(NM_012434.4):c.-174dupG - SLC17A5_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.85G>A r.(?) p.(Ala29Thr) Unknown - likely benign g.74363525C>T - SLC17A5(NM_012434.4):c.85G>A (p.(Ala29Thr)) - SLC17A5_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1i c.95-1G>C r.95_291del p.Ala32Glyfs*2 Unknown - pathogenic g.74354327C>G g.73644604C>G cDNA 95-1G>C: Removes splice site, deletion of exon 2 (95–291del) - SLC17A5_000001 1 Swedish SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.115C>T r.115c>t p.Arg39Cys Unknown - pathogenic g.74354306G>A g.73644583G>A R39C, in loop before TM domain 1 - SLC17A5_000002 Finnish major SD mutation: >100 Finnish SD patients (most hom) and also 14 Swedish SD patients (most hom). In addition, British, Italian, Dutch, German, American and Old Order Mennonite SD patients. PubMed: Verheijen et al. 1999, PubMed: Aula et al. 2000, PubMed: Varho et al. 2002, PubMed: Linnakivi et al. 2003, PubMed: Martin et al. 2003, PubMed: Strauss et al. 2005 - rs80338794 SUMMARY record yes 0/100 FIN CON - - - - - - - - - - - - - - - - - - - - -
+/. - c.115C>T r.(?) p.(Arg39Cys) Unknown - pathogenic g.74354306G>A g.73644583G>A SLC17A5(NM_012434.4):c.115C>T (p.R39C), SLC17A5(NM_012434.5):c.115C>T (p.R39C) - SLC17A5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.115C>T r.(?) p.(Arg39Cys) Unknown - pathogenic g.74354306G>A g.73644583G>A SLC17A5(NM_012434.4):c.115C>T (p.R39C), SLC17A5(NM_012434.5):c.115C>T (p.R39C) - SLC17A5_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.115C>T r.(?) p.(Arg39Cys) Parent #1 - pathogenic g.74354306G>A g.73644583G>A - - SLC17A5_000002 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs80338794 Germline - 1/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
+?/. - c.116G>A r.(?) p.(Arg39His) Both (homozygous) ACMG likely pathogenic g.74354305C>T g.73644582C>T - - SLC17A5_000017 - PubMed: Trujillano 2017 - - Germline - - - 0 - DNA SEQ, SEQ-NG - - SD - PubMed: Trujillano 2017 unaffected parents - - - - - 0 - - 1 Daniel Trujillano
+/. - c.116G>A r.(?) p.(Arg39His) Unknown ACMG pathogenic g.74354305C>T g.73644582C>T - - SLC17A5_000017 - - - - Germline - - - 0 - DNA ? - - ? SLC17A5 - - - ? - - - - - - 1 Muhammad Umair
-/. - c.246G>A r.(?) p.(Ala82=) Unknown - benign g.74354175C>T g.73644452C>T SLC17A5(NM_012434.4):c.246G>A (p.A82=) - SLC17A5_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 2 c.291G>A r.95_291del p.Ala32Glyfs*2 Paternal (confirmed) - pathogenic g.74354130C>T g.73644407C>T c291G>A - SLC17A5_000004 1 Caucasian SD patient (com-het) PubMed: Kleta et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.291G>A r.spl? p.(Thr97=) Parent #1 - pathogenic (recessive) g.74354130C>T g.73644407C>T - - SLC17A5_000004 - PubMed: Lionel 2018 - - Germline - - - 0 - DNA SEQ-NG - WGS ? 28771251-Pat59 PubMed: Lionel 2018 - F - Canada - - 0 - - 1 Johan den Dunnen
-/. - c.292-22T>C r.(=) p.(=) Unknown - benign g.74351669A>G g.73641946A>G SLC17A5(NM_012434.4):c.292-22T>C - SLC17A5_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2i_4i c.293_613+1del r.292_613del p.(Gly98Glufs*7) Unknown - pathogenic g.74348137_74351649del g.73638414_73641926del 292–611del:deletion of exons 3-4 - SLC17A5_000005 1 German SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.309G>A r.309g>a p.Trp103* Unknown - pathogenic g.74351630C>T g.73641907C>T 309G>A, W103X - SLC17A5_000006 1 Swedish SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.360C>T r.(?) p.(Ile120=) Unknown - likely benign g.74351579G>A g.73641856G>A SLC17A5(NM_012434.4):c.360C>T (p.I120=) - SLC17A5_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3 c.406A>G r.406a>g p.Lys136Glu Unknown - pathogenic g.74351533T>C g.73641810T>C 406A>G, K136E - SLC17A5_000007 1 Finnish SD patient (com-het), 1 Italian SD patient (hom) PubMed: Aula et al. 2000, PubMed: Biancheri et al. 2005 - rs80338795 SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.481G>A r.(?) p.(Val161Ile) Unknown - VUS g.74351458C>T g.73641735C>T SLC17A5(NM_012434.4):c.481G>A (p.(Val161Ile)) - SLC17A5_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/+? 3 c.500T>C r.(?) p.(Leu167Pro) Unknown - likely pathogenic g.74351439A>G g.73641716A>G - - SLC17A5_000015 1 Spanish patient (com-het) with SD PubMed: Couce et al. 2014 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3 c.507del r.507dela p.(Leu170*) Unknown - pathogenic g.74351432del g.73641709del del 507A - SLC17A5_000008 1 Finnish SD patient (com-het) PubMed: Linnakivi et al. 2003 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.507del r.(?) p.(Leu170Ter) Unknown - pathogenic g.74351432del g.73641709del SLC17A5(NM_012434.4):c.507delA (p.L170*) - SLC17A5_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 3i_6i c.526_819del r.526_819del p.Gly176_Gln273del Unknown - pathogenic g.74345105_74348221del - 526–819del: del exons 4–6; del (525-818): del exons 4-6 - SLC17A5_000009 4 Finnish SD patients (com-het) Variant Error [EMISMATCH]: This variant seems to mismatch; the genomic and the transcript variant seems to not belong together. Please fix this entry and then remove this message. PubMed: Varho et al. 2002, PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.533del r.(?) p.(Thr178AsnfsTer34) Unknown - pathogenic g.74348215del g.73638492del SLC17A5(NM_012434.4):c.533delC (p.T178Nfs*34) - SLC17A5_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.606A>G r.(?) p.(Ser202=) Unknown - benign g.74348142T>C g.73638419T>C SLC17A5(NM_012434.4):c.606A>G (p.S202=) - SLC17A5_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.704C>T r.(?) p.(Thr235Ile) Unknown - likely benign g.74345220G>A - SLC17A5(NM_012434.4):c.704C>T (p.T235I) - SLC17A5_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.719G>A r.719g>a p.Trp240* Unknown - pathogenic g.74345205C>T g.73635482C>T 719G>A, W240X - SLC17A5_000010 1 Finnish SD patient (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.719G>A r.(?) p.(Trp240Ter) Unknown - pathogenic g.74345205C>T g.73635482C>T SLC17A5(NM_012434.4):c.719G>A (p.W240*) - SLC17A5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+?/. - c.723del r.(?) p.(Leu242PhefsTer6) Unknown - likely pathogenic g.74345203del - - - SLC17A5_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.738_741del r.(?) p.(Ser249Thrfs*21) Both (homozygous) - likely pathogenic (recessive) g.74345183_74345186del g.73635460_73635463del NM_012434.4:c.744_747del:p.(Ser249Thrfs*21) - SLC17A5_000044 - PubMed: Maddirevula 2018 - - Germline - - - 0 - DNA SEQ, SEQ-NG - WES skeletal dysplasia 15DG0877 PubMed: Maddirevula 2018 family M yes - Arab - 0 - - 1 LOVD
+?/. - c.762dup r.(?) p.(His255ThrfsTer8) Unknown - likely pathogenic g.74345166dup g.73635443dup SLC17A5(NM_012434.4):c.762dupA (p.H255Tfs*8) - SLC17A5_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 6 c.802_816del r.802_816del p.Ser268_Asn272del Unknown - pathogenic g.74345109_74345123del g.73635386_73635400del 15 base-pair deletion (802–816) in exon 6 - SLC17A5_000011 1 Italian SD patient (het); (previously found only in ISSD patients) PubMed: Biancheri et al. 2002 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.802_816del r.(?) p.(Ser268_Asn272del) Unknown - pathogenic g.74345109_74345123del g.73635386_73635400del SLC17A5(NM_012434.4):c.802_816delTCATCATTAAGAAAT (p.S268_N272del) - SLC17A5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.819+1G>A r.spl p.? Parent #2 - pathogenic (recessive) g.74345104C>T g.73635381C>T - - SLC17A5_000029 - PubMed: Lionel 2018 - - Germline - - - 0 - DNA SEQ-NG - WGS ? 28771251-Pat59 PubMed: Lionel 2018 - F - Canada - - 0 - - 1 Johan den Dunnen
-?/. - c.820-3C>T r.spl? p.? Unknown - likely benign g.74331688G>A g.73621965G>A SLC17A5(NM_012434.4):c.820-3C>T - SLC17A5_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.842C>T r.(?) p.(Pro281Leu) Unknown - VUS g.74331663G>A - SLC17A5(NM_012434.4):c.842C>T (p.P281L) - SLC17A5_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A r.(?) p.(Val296Ile) Unknown - likely benign g.74331619C>T g.73621896C>T SLC17A5(NM_012434.4):c.886G>A (p.(Val296Ile)) - SLC17A5_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.886G>A r.(?) p.(Val296Ile) Parent #1 - likely benign g.74331619C>T g.73621896C>T - - SLC17A5_000035 109 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16883930 Germline - 109/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 109 Mohammed Faruq
-?/. - c.886G>A r.(?) p.(Val296Ile) Both (homozygous) - likely benign g.74331619C>T g.73621896C>T - - SLC17A5_000035 5 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16883930 Germline - 5/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
?/. - c.899C>T r.(?) p.(Ser300Phe) Unknown - VUS g.74331606G>A g.73621883G>A SLC17A5(NM_012434.4):c.899C>T (p.S300F) - SLC17A5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899C>T r.(?) p.(Ser300Phe) Unknown - VUS g.74331606G>A g.73621883G>A SLC17A5(NM_012434.4):c.899C>T (p.S300F) - SLC17A5_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.918T>G r.(?) p.(Tyr306*) Unknown - likely pathogenic g.74331587A>C g.73621864A>C - - SLC17A5_000016 1 Spanish patient (com-het) with SD, previously found in one French ISSD patient (com-het) PubMed: Couce et al. 2014, PubMed: Aula et al. 2000 - - SUMMARY record yes - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.957C>A r.(?) p.(Ile319=) Unknown - likely benign g.74331548G>T g.73621825G>T SLC17A5(NM_012434.4):c.957C>A (p.I319=) - SLC17A5_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 8 c.983G>A r.983g>a p.Gly328Glu Both (homozygous) - likely pathogenic g.74325166C>T g.73615443C>T 983G>A nucleotide change in exon 8 - SLC17A5_000012 1 Bedouin SD family (hom) PubMed: Landau et al. 2004 - - SUMMARY record yes 0/50 BED CON - - - - - - - - - - - - - - - - - - - - -
+/. - c.990dup r.(?) p.(Ser331IlefsTer20) Unknown - pathogenic g.74325159dup g.73615436dup SLC17A5(NM_012434.4):c.990dupA (p.S331Ifs*20) - SLC17A5_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 8 c.1007_1008del r.1007_1008delta p.Leu336Trpfs*14 Unknown - pathogenic g.74325141_74325142del g.73615418_73615419del 2-base pair deletion (1007-1008) - SLC17A5_000013 5 Finnish SD patients (com-het) and 1 Swedish SD patient (com-het) PubMed: Aula et al. 2000, PubMed: Varho et al. 2002 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1111+1G>A r.spl? p.? Unknown - pathogenic g.74325037C>T g.73615314C>T SLC17A5(NM_012434.4):c.1111+1G>A - SLC17A5_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1111+7G>A r.(=) p.(=) Unknown - benign g.74325031C>T g.73615308C>T SLC17A5(NM_012434.4):c.1111+7G>A - SLC17A5_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/+ 9 c.1138_1139del r.1138_1139delgt p.Val380Serfs*8 Unknown - pathogenic g.74320243_74320244del g.73610520_73610521del 1138–1139del: Frameshift, 7 novel amino acids, premature stop - SLC17A5_000014 1 British SD family (com-het) PubMed: Aula et al. 2000 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1138_1139del r.(?) p.(Val380SerfsTer8) Unknown - pathogenic g.74320243_74320244del - - - SLC17A5_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1177G>A r.(?) p.(Val393Ile) Unknown - VUS g.74320205C>T - SLC17A5(NM_012434.4):c.1177G>A (p.V393I) - SLC17A5_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1192A>G r.(?) p.(Ile398Val) Unknown - VUS g.74320190T>C g.73610467T>C - - SLC17A5_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 9 c.1226G>A r.1226g>a p.Gly409Glu Maternal (confirmed) - likely pathogenic g.74320156C>T g.73610433C>T c1226G>A, G409E, alteration of a highly conserved amino acid within a transmembrane region - SLC17A5_000003 1 Caucasian SD patient (com-het) PubMed: Kleta et al. 2001 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1250T>C r.(?) p.(Ile417Thr) Unknown - VUS g.74320132A>G - SLC17A5(NM_012434.4):c.1250T>C (p.I417T) - SLC17A5_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1259C>T r.(?) p.(Ser420Leu) Unknown - VUS g.74320123G>A g.73610400G>A SLC17A5(NM_012434.4):c.1259C>T (p.(Ser420Leu)) - SLC17A5_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1324G>A r.(?) p.(Val442Ile) Unknown - likely benign g.74310100C>T g.73600377C>T SLC17A5(NM_012434.4):c.1324G>A (p.V442I), SLC17A5(NM_012434.5):c.1324G>A (p.V442I) - SLC17A5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1324G>A r.(?) p.(Val442Ile) Unknown - likely benign g.74310100C>T g.73600377C>T SLC17A5(NM_012434.4):c.1324G>A (p.V442I), SLC17A5(NM_012434.5):c.1324G>A (p.V442I) - SLC17A5_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1351-23G>A r.(=) p.(=) Unknown - benign g.74304960C>T g.73595237C>T SLC17A5(NM_012434.4):c.1351-23G>A - SLC17A5_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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