Unique variants in the SLC38A5 gene

Information The variants shown are described using the NM_033518.2 transcript reference sequence.

11 entries on 1 page. Showing entries 1 - 11.
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Effect     

Reported     

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     
+/. 1 _1_17_ c.0 r.0 p.0 - pathogenic (recessive) g.48307157_48336450del g.48448786_48478079del - - FTSJ1_000019 - PubMed: Froyen 2007 - - Germline yes - - - - Johan den Dunnen
?/. 1 - c.129+8G>T r.(=) p.(=) - VUS g.48326089C>A g.48467702C>A SLC38A5(NM_033518.2):c.129+8G>T (p.(=)) - SLC38A5_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.168C>T r.(?) p.(Asn56=) - likely benign g.48325426G>A g.48467039G>A SLC38A5(NM_033518.3):c.168C>T (p.N56=) - SLC38A5_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.246-4G>A r.spl? p.? - likely benign g.48325263C>T g.48466876C>T SLC38A5(NM_033518.2):c.246-4G>A (p.?) - SLC38A5_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.373G>A r.(?) p.(Val125Ile) - likely benign g.48324656C>T - SLC38A5(NM_033518.3):c.373G>A (p.V125I) - SLC38A5_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.573G>A r.(?) p.(Leu191=) - VUS g.48321284C>T g.48462899C>T SLC38A5(NM_033518.2):c.573G>A (p.(=)) - SLC38A5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.893T>C r.(?) p.(Ile298Thr) - VUS g.48319431A>G g.48461045A>G SLC38A5(NM_033518.2):c.893T>C (p.(Ile298Thr)) - SLC38A5_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.1068+136T>C r.(=) p.(=) - VUS g.48318899A>G g.48460513= - - SLC38A5_000004 - - - - Germline - - - - - Yu Sun
?/. 2 - c.1069-160A>G r.(=) p.(=) - VUS g.48318422T>C g.48460036T>C - - SLC38A5_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1352T>C r.(?) p.(Met451Thr) - VUS g.48317386A>G g.48459000A>G - - SLC38A5_000008 recurrent, found 13 times PubMed: Tarpey 2009 - - Germline - 13/208 cases - - - Lucy Raymond
-/. 1 - c.*275_*277del r.(=) p.(=) - benign g.48317079_48317081del - SLC38A5(NM_033518.3):c.*272_*274delAGG - SLC38A5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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