Full data view for gene SLC1A3

Information The variants shown are described using the NM_004172.4 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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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.15T>C r.(?) p.(Asn5=) Unknown - likely benign g.36608540T>C g.36608438T>C SLC1A3(NM_004172.4):c.15T>C (p.N5=), SLC1A3(NM_004172.5):c.15T>C (p.N5=) - SLC1A3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.15T>C r.(?) p.(Asn5=) Unknown - likely benign g.36608540T>C - SLC1A3(NM_004172.4):c.15T>C (p.N5=), SLC1A3(NM_004172.5):c.15T>C (p.N5=) - SLC1A3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38G>T r.(?) p.(Gly13Val) Unknown - VUS g.36608563G>T - - - SLC1A3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.68G>A r.(?) p.(Arg23His) Unknown - VUS g.36608593G>A g.36608491G>A SLC1A3(NM_004172.4):c.68G>A (p.R23H) - SLC1A3_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.182-8del r.(=) p.(=) Unknown - benign g.36629544del g.36629442del SLC1A3(NM_004172.5):c.182-8delT - SLC1A3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.195A>T r.(?) p.(Gly65=) Unknown - likely benign g.36629565A>T g.36629463A>T SLC1A3(NM_004172.5):c.195A>T (p.G65=) - SLC1A3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.231A>G r.(?) p.(Glu77=) Unknown - likely benign g.36629601A>G g.36629499A>G SLC1A3(NM_004172.5):c.231A>G (p.E77=) - SLC1A3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279G>A r.(?) p.(Gln93=) Unknown - likely benign g.36629649G>A - SLC1A3(NM_004172.4):c.279G>A (p.Q93=) - SLC1A3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.320-7C>T r.(=) p.(=) Unknown - likely benign g.36671124C>T g.36671022C>T SLC1A3(NM_001166695.1):c.320-7C>T (p.(=)), SLC1A3(NM_004172.4):c.320-7C>T, SLC1A3(NM_004172.5):c.320-7C>T - SLC1A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.320-7C>T r.(=) p.(=) Unknown - likely benign g.36671124C>T g.36671022C>T SLC1A3(NM_001166695.1):c.320-7C>T (p.(=)), SLC1A3(NM_004172.4):c.320-7C>T, SLC1A3(NM_004172.5):c.320-7C>T - SLC1A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.320-7C>T r.(=) p.(=) Unknown - likely benign g.36671124C>T - SLC1A3(NM_001166695.1):c.320-7C>T (p.(=)), SLC1A3(NM_004172.4):c.320-7C>T, SLC1A3(NM_004172.5):c.320-7C>T - SLC1A3_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.329C>T r.(?) p.(Ala110Val) Unknown - VUS g.36671140C>T g.36671038C>T SLC1A3(NM_004172.4):c.329C>T (p.A110V) - SLC1A3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.350G>A r.(?) p.(Gly117Glu) Unknown - VUS g.36671161G>A - SLC1A3(NM_004172.5):c.350G>A (p.G117E) - SLC1A3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648T>C r.(?) p.(Asn216=) Unknown - likely benign g.36677074T>C g.36676972T>C SLC1A3(NM_004172.4):c.648T>C (p.N216=), SLC1A3(NM_004172.5):c.648T>C (p.N216=) - SLC1A3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.648T>C r.(?) p.(Asn216=) Unknown - likely benign g.36677074T>C g.36676972T>C SLC1A3(NM_004172.4):c.648T>C (p.N216=), SLC1A3(NM_004172.5):c.648T>C (p.N216=) - SLC1A3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.657G>C r.(?) p.(Glu219Asp) Unknown - benign g.36677083G>C g.36676981G>C SLC1A3(NM_004172.4):c.657G>C (p.E219D) - SLC1A3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.870C>T r.(?) p.(Pro290=) Unknown - likely benign g.36679738C>T - SLC1A3(NM_004172.4):c.870C>T (p.P290=) - SLC1A3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.952A>G r.(?) p.(Thr318Ala) Unknown - VUS g.36679820A>G g.36679718A>G SLC1A3(NM_004172.4):c.952A>G (p.T318A) - SLC1A3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1074C>T r.(?) p.(Thr358=) Unknown - likely benign g.36679942C>T g.36679840C>T SLC1A3(NM_004172.4):c.1074C>T (p.T358=) - SLC1A3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1273C>A r.(?) p.(Gln425Lys) Unknown - VUS g.36680675C>A - - - SLC1A3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1342C>T r.(?) p.(Leu448=) Unknown - benign g.36684018C>T - SLC1A3(NM_004172.5):c.1342C>T (p.L448=) - SLC1A3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1397C>T r.(?) p.(Thr466Met) Unknown ACMG VUS g.36684073C>T - - - SLC1A3_000015 ACMG grading: PM2,PP3 episodic ataxia, differential diagnosis vestibular migraine or recurrent peripheral vestibulopathy, currently neuropathy vestibularis - - rs763798684 Germline - - - - - DNA SEQ-NG-S - - ? - - - F - - - - - - - 1 Andreas Laner
?/. - c.1397C>T r.(?) p.(Thr466Met) Unknown ACMG VUS g.36684073C>T - - - SLC1A3_000015 ACMG: PM2_SUP, PP3 - - - Germline ? - - - - DNA SEQ-NG-I - - EA6 184722 - - F no Germany - - - - - 1 Andreas Laner
-?/. - c.1425-8G>C r.(=) p.(=) Unknown - likely benign g.36686159G>C g.36686057G>C SLC1A3(NM_004172.4):c.1425-8G>C, SLC1A3(NM_004172.5):c.1425-8G>C - SLC1A3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1425-8G>C r.(=) p.(=) Unknown - likely benign g.36686159G>C g.36686057G>C SLC1A3(NM_004172.4):c.1425-8G>C, SLC1A3(NM_004172.5):c.1425-8G>C - SLC1A3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1450G>A r.(?) p.(Val484Ile) Unknown - VUS g.36686192G>A g.36686090G>A SLC1A3(NM_004172.4):c.1450G>A (p.V484I) - SLC1A3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1489T>C r.(?) p.(Leu497=) Unknown - likely benign g.36686231T>C g.36686129T>C SLC1A3(NM_004172.5):c.1489T>C (p.L497=) - SLC1A3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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