All variants in the SLC7A9 gene

Information The variants shown are described using the NM_001126335.1 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-86T>A r.(?) p.(=) - benign g.33360652A>T g.32869746A>T - - SLC7A9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-26+17G>C r.(=) p.(=) - benign g.33360575C>G g.32869669C>G - - SLC7A9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.-25-14C>T r.(=) p.(=) - benign g.33359479G>A g.32868573G>A - - SLC7A9_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.120G>A r.(?) p.(Val40=) - likely pathogenic g.33355650C>T g.32864744C>T - - SLC7A9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.209C>T r.(?) p.(Ala70Val) - pathogenic g.33355561G>A - SLC7A9(NM_014270.5):c.209C>T (p.A70V) - SLC7A9_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.252G>A r.(?) p.(Ala84=) - likely benign g.33355228C>T - SLC7A9(NM_001243036.1):c.252G>A (p.A84=) - SLC7A9_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.313G>A r.(?) p.(Gly105Arg) - pathogenic g.33355167C>T g.32864261C>T - - SLC7A9_000024 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908480 Germline - 1/2795 individuals - 0 - Mohammed Faruq
+/. - c.313G>A r.(?) p.(Gly105Arg) ACMG pathogenic g.33355167C>T g.32864261C>T SLC7A9 c.313G>A, p.G105R - SLC7A9_000024 heterozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - 0 - LOVD
+/. - c.313G>A r.(?) p.(Gly105Arg) ACMG pathogenic g.33355167C>T g.32864261C>T SLC7A9 c.313G>A, p.G105R - SLC7A9_000024 heterozygous; solved PubMed: Zacchia 2021 - - Unknown ? - - 0 - LOVD
?/. - c.368C>T r.(?) p.(Thr123Met) - VUS g.33355112G>A g.32864206G>A SLC7A9(NM_001243036.1):c.368C>T (p.T123M) - SLC7A9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.368C>T r.(?) p.(Thr123Met) - VUS g.33355112G>A g.32864206G>A SLC7A9(NM_001243036.1):c.368C>T (p.T123M) - SLC7A9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.368C>T r.(?) p.(Thr123Met) - pathogenic (recessive) g.33355112G>A g.32864206G>A - - SLC7A9_000023 - - - - Germline - - - 0 - Malak Alghamdi
-/. - c.399C>T r.(?) p.(Ser133=) - benign g.33355081G>A g.32864175G>A - - SLC7A9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.411T>C r.(?) p.(Cys137=) - benign g.33355069A>G g.32864163A>G - - SLC7A9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.425T>C r.(?) p.(Val142Ala) - benign g.33355055A>G g.32864149A>G SLC7A9(NM_001243036.2):c.425T>C (p.V142A) - SLC7A9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.425T>C r.(?) p.(Val142Ala) - benign g.33355055A>G g.32864149A>G SLC7A9(NM_001243036.2):c.425T>C (p.V142A) - SLC7A9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.431G>T r.(?) p.(Cys144Phe) - VUS g.33355049C>A g.32864143C>A - - SLC7A9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.478+10T>C r.(=) p.(=) - benign g.33354992A>G g.32864086A>G SLC7A9(NM_001243036.2):c.478+10T>C - SLC7A9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.478+10T>C r.(=) p.(=) - benign g.33354992A>G g.32864086A>G SLC7A9(NM_001243036.2):c.478+10T>C - SLC7A9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.479-83dup r.(=) p.(=) - benign g.33353589dup g.32862683dup SLC7A9(NM_001243036.2):c.479-83dupA - SLC7A9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.479-1G>A r.spl? p.? - pathogenic g.33353493C>T g.32862587C>T - - SLC7A9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.507C>T r.(?) p.(Ser169=) - benign g.33353464G>A g.32862558G>A SLC7A9(NM_001243036.2):c.507C>T (p.S169=) - SLC7A9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.513G>T r.(?) p.(Arg171=) - likely benign g.33353458C>A - SLC7A9(NM_001243036.1):c.513G>T (p.R171=) - SLC7A9_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.544G>A r.(?) p.(Ala182Thr) - VUS g.33353427C>T g.32862521C>T SLC7A9(NM_001243036.1):c.544G>A (p.A182T), SLC7A9(NM_014270.5):c.544G>A (p.A182T) - SLC7A9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.544G>A r.(?) p.(Ala182Thr) - likely pathogenic g.33353427C>T g.32862521C>T - - SLC7A9_000032 3 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs79389353 Germline - 3/2795 individuals - 0 - Mohammed Faruq
+?/. - c.544G>A r.(?) p.(Ala182Thr) - likely pathogenic g.33353427C>T - SLC7A9(NM_001243036.1):c.544G>A (p.A182T), SLC7A9(NM_014270.5):c.544G>A (p.A182T) - SLC7A9_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. - c.573C>A r.(?) p.(Ile191=) - likely benign g.33353398G>T - SLC7A9(NM_001243036.1):c.573C>A (p.I191=) - SLC7A9_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.583G>A r.(?) p.(Gly195Arg) - likely pathogenic g.33353388C>T g.32862482C>T - - SLC7A9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.583G>A r.(?) p.(Gly195Arg) - pathogenic g.33353388C>T g.32862482C>T - - SLC7A9_000018 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908482 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-/. - c.604+10G>A r.(=) p.(=) - benign g.33353357C>T g.32862451C>T - - SLC7A9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.614dup r.(?) p.(Asn206GlufsTer3) - pathogenic g.33353116dup g.32862210dup SLC7A9(NM_001243036.2):c.614dupA (p.N206Efs*3) - SLC7A9_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.667C>A r.(?) p.(Leu223Met) - benign g.33353061G>T g.32862155G>T SLC7A9(NM_001243036.2):c.667C>A (p.L223M) - SLC7A9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.667C>A r.(?) p.(Leu223Met) - benign g.33353061G>T g.32862155G>T SLC7A9(NM_001243036.2):c.667C>A (p.L223M) - SLC7A9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.687C>T r.(?) p.(Leu229=) - benign g.33353041G>A g.32862135G>A SLC7A9(NM_001243036.2):c.687C>T (p.L229=) - SLC7A9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.687C>T r.(?) p.(Leu229=) - benign g.33353041G>A g.32862135G>A SLC7A9(NM_001243036.2):c.687C>T (p.L229=) - SLC7A9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.695A>G r.(?) p.(Tyr232Cys) - likely pathogenic g.33353033T>C g.32862127T>C SLC7A9(NM_001243036.1):c.695A>G (p.Y232C) - SLC7A9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. - c.695A>G r.(?) p.(Tyr232Cys) - VUS g.33353033T>C - SLC7A9(NM_001243036.1):c.695A>G (p.Y232C) - SLC7A9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.814G>A r.(?) p.(Val272Met) - VUS g.33350806C>T g.32859900C>T SLC7A9(NM_001243036.1):c.814G>A (p.V272M) - SLC7A9_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.829G>A r.(?) p.(Val277Met) - likely pathogenic g.105173976C>T g.104707639C>T SLC7A9(NM_014270.4):c.829G>A(p.V277M);INF2(NM_022489.3):c.1372C>T(p.P458S) - SLC7A9_000043 different transcript: SLC7A9(NM_001243036.1):c.829G>A(p.V277M) PubMed: Sun 2018 - - Germline/De novo (untested) ? 247 - 0 - LOVD
+?/. - c.829G>A r.(?) p.(Val277Met) - likely pathogenic g.128696461G>A g.129562484G>A OCRL(NM_000276.3):c.1040G>A(p.G347E); SLC7A9(NM_001243036.1):c.829G>A(p.V277M) - SLC7A9_000043 different transcript: SLC7A9(NM_001243036.1):c.829G>A(p.V277M) PubMed: Sun 2018 - - Germline/De novo (untested) ? 130 - 0 - LOVD
-?/. - c.873+17C>T r.(=) p.(=) - likely benign g.33350730G>A g.32859824G>A - - SLC7A9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.972G>A r.(?) p.(Ala324=) - benign g.33349351C>T g.32858445C>T - - SLC7A9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+?/. - c.997C>T r.(?) p.(Arg333Trp) - likely pathogenic g.33334838G>A g.32843932G>A - - SLC7A9_000035 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121908484 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.1059C>T r.(?) p.(Pro353=) - likely benign g.33334776G>A - SLC7A9(NM_001243036.1):c.1059C>T (p.P353=) - SLC7A9_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1060G>A r.(?) p.(Ala354Thr) - VUS g.33334775C>T g.32843869C>T - - SLC7A9_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.1075-9_1075-6del r.(=) p.(=) - likely benign g.33333233_33333236del - SLC7A9(NM_001243036.1):c.1075-9_1075-6delTTCT - SLC7A9_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1143C>T r.(?) p.(Ala381=) - benign g.33333155G>A g.32842249G>A SLC7A9(NM_001243036.2):c.1143C>T (p.A381=) - SLC7A9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1143C>T r.(?) p.(Ala381=) - benign g.33333155G>A g.32842249G>A SLC7A9(NM_001243036.2):c.1143C>T (p.A381=) - SLC7A9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-?/. - c.1161C>T r.(?) p.(Gly387=) - likely benign g.33333137G>A g.32842231G>A SLC7A9(NM_001243036.1):c.1161C>T (p.G387=) - SLC7A9_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.1266_1267del r.(?) p.(Leu424GlyfsTer63) ACMG pathogenic g.33324190_33324191del g.32833284_32833285del SLC7A9 c.1266_1267del, p.L424Gfs*63 - chr19_006973 heterozygous; unsolved PubMed: Zacchia 2021 - - Unknown ? - - 0 - LOVD
+/. - c.1266_1267del r.(?) p.(Leu424GlyfsTer63) ACMG pathogenic g.33324190_33324191del g.32833284_32833285del SLC7A9 c.1266_1267del, p.L424Gfs*63 - chr19_006973 heterozygous; unsolved PubMed: Zacchia 2021 - - Unknown ? - - 0 - LOVD
-?/. - c.1338C>T r.(?) p.(Ser446=) - likely benign g.33324116G>A g.32833210G>A SLC7A9(NM_001243036.1):c.1338C>T (p.S446=) - SLC7A9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.1365C>T r.(?) p.(Val455=) - benign g.33324089G>A g.32833183G>A - - SLC7A9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
-/. - c.1400-129_1400-128dup r.(=) p.(=) - benign g.33321718_33321719dup g.32830812_32830813dup SLC7A9(NM_001243036.2):c.1400-129_1400-128dupCC - SLC7A9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-/. - c.1400-127T>C r.(=) p.(=) - benign g.33321717A>G g.32830811A>G SLC7A9(NM_001243036.2):c.1400-127T>C - SLC7A9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.1444C>T r.(?) p.(Pro482Ser) - benign g.33321546G>A g.32830640G>A SLC7A9(NM_001243036.1):c.1444C>T (p.P482S) - SLC7A9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.*79T>C r.(=) p.(=) - benign g.33321447A>G g.32830541A>G - - SLC7A9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
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