Full data view for gene SLC38A5

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

12 entries on 1 page. Showing entries 1 - 12.
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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     
+/. _1_17_ c.0 r.0 p.0 Maternal (confirmed) - pathogenic (recessive) g.48307157_48336450del g.48448786_48478079del - - FTSJ1_000019 - PubMed: Froyen 2007 - - Germline yes - - 0 - DNA arrayCGH, PCR - - ID 17333282-Fam PubMed: Froyen 2007 2-generation family, 3 affected brothers, unaffected heterozygous carrier mother M no Germany - - 0 - - 3 Johan den Dunnen
?/. - c.129+8G>T r.(=) p.(=) Unknown - 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 - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.168C>T r.(?) p.(Asn56=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.246-4G>A r.spl? p.? Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.573G>A r.(?) p.(Leu191=) Unknown - VUS g.48321284C>T g.48462899C>T SLC38A5(NM_033518.2):c.573G>A (p.(=)) - SLC38A5_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.893T>C r.(?) p.(Ile298Thr) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1068+136T>C r.(=) p.(=) Maternal (inferred) - VUS g.48318899A>G g.48460513= - - SLC38A5_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1068+136T>C r.(=) p.(=) Maternal (inferred) - VUS g.48318899A>G g.48460513= - - SLC38A5_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1069-160A>G r.(=) p.(=) Maternal (inferred) - VUS g.48318422T>C g.48460036T>C - - SLC38A5_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1069-160A>G r.(=) p.(=) Maternal (inferred) - VUS g.48318422T>C g.48460036T>C - - SLC38A5_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - 1 Yu Sun
?/. - c.1352T>C r.(?) p.(Met451Thr) Parent #1 - VUS g.48317386A>G g.48459000A>G - - SLC38A5_000008 recurrent, found 13 times PubMed: Tarpey 2009 - - Germline - 13/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 13 Lucy Raymond
-/. - c.*275_*277del r.(=) p.(=) Unknown - benign g.48317079_48317081del - SLC38A5(NM_033518.3):c.*272_*274delAGG - SLC38A5_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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