Full data view for gene SLC9A3R1

NOTE: gene name changed from SLC9A3R1 to NHERF1
Information The variants shown are described using the NM_004252.4 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     
?/. - c.-3527G>A r.(?) p.(=) Unknown - VUS g.72741459G>A g.74745320G>A RAB37(NM_001006638.2):c.581G>A (p.(Arg194Gln)) - RAB37_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-75G>A r.(?) p.(=) Unknown - benign g.72744911G>A g.74748772G>A SLC9A3R1(NM_004252.5):c.-75G>A - SLC9A3R1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.128A>C r.(?) p.(Glu43Ala) Unknown - VUS g.72745113A>C - SLC9A3R1(NM_004252.5):c.128A>C (p.E43A) - SLC9A3R1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.129G>T r.(?) p.(Glu43Asp) Unknown - VUS g.72745114G>T - SLC9A3R1(NM_004252.5):c.129G>T (p.E43D) - CD300LF_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.328C>G r.(?) p.(Leu110Val) Unknown - benign g.72745313C>G g.74749174C>G SLC9A3R1(NM_004252.5):c.328C>G (p.L110V) - SLC9A3R1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.328C>G r.(?) p.(Leu110Val) Unknown - benign g.72745313C>G g.74749174C>G SLC9A3R1(NM_004252.5):c.328C>G (p.L110V) - SLC9A3R1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.328C>G r.(?) p.(Leu110Val) Unknown - likely benign g.72745313C>G g.74749174C>G SLC9A3R1(NM_004252.5):c.328C>G (p.L110V) - SLC9A3R1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458G>A r.(?) p.(Arg153Gln) Unknown - VUS g.72758167G>A - SLC9A3R1(NM_004252.5):c.458G>A (p.R153Q) - SLC9A3R1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.555C>A r.(?) p.(Asp185Glu) Unknown - likely benign g.72758264C>A - SLC9A3R1(NM_004252.5):c.555C>A (p.D185E) - SLC9A3R1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798+71G>A r.(=) p.(=) Unknown - likely benign g.72763186G>A g.74767047G>A SLC9A3R1(NM_004252.5):c.798+71G>A - SLC9A3R1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.888+2T>C r.spl? p.? Unknown - VUS g.72764377T>C g.74768238T>C - - SLC9A3R1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.888+13T>C r.(=) p.(=) Unknown - likely benign g.72764388T>C - SLC9A3R1(NM_004252.5):c.888+13T>C - NAT9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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