Full data view for gene RAB7A

This database is one of the gene variant databases from the Leiden Muscular Dystrophy pages
Information The variants shown are described using the NM_004637.5 transcript reference sequence.

30 entries on 1 page. Showing entries 1 - 30.
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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.-8-417C>T r.(=) p.(=) Unknown - benign g.128513786C>T - RAB7A(NM_004637.6):c.-8-417C>T - RAB7A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-8-4T>C r.spl? p.? Unknown - likely benign g.128514199T>C g.128795356T>C RAB7A(NM_004637.6):c.-8-4T>C - RAB7A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.53+14G>T r.(=) p.(=) Unknown - likely benign g.128514277G>T g.128795434G>T RAB7A(NM_004637.6):c.53+14G>T - RAB7A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.53+74C>T r.(=) p.(=) Parent #1 - VUS g.128514337C>T g.128795494C>T - - RAB7A_000006 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.87G>A r.(=) p.(=) Parent #1 - VUS g.128516819G>A g.128797976G>A - - RAB7A_000007 - - - - Germline - - - - - DNA SEQ - - ? - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.87G>A r.(?) p.(Val29=) Unknown - benign g.128516819G>A g.128797976G>A RAB7A(NM_004637.6):c.87G>A (p.V29=) - RAB7A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183A>C r.(?) p.(Ile61=) Unknown - likely benign g.128525217A>C - RAB7A(NM_004637.6):c.183A>C (p.I61=) - RAB7A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.219C>T r.(?) p.(Leu73=) Unknown - benign g.128525253C>T g.128806410C>T RAB7A(NM_004637.6):c.219C>T (p.L73=) - RAB7A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.377A>G r.(?) p.(Lys126Arg) Unknown - likely pathogenic (dominant) g.128525411A>G g.128806568A>G - - RAB7A_000012 - PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+?/. - c.377A>G r.(?) p.(Lys126Arg) Unknown - likely pathogenic g.128525411A>G - - - RAB7A_000012 - - - rs1933806941 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.385C>T r.(?) p.(Leu129Phe) Unknown - pathogenic g.128525419C>T g.128806576C>T RAB7A(NM_004637.6):c.385C>T (p.L129F) - RAB7A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.385C>T r.(?) p.(Leu129Phe) Unknown - pathogenic (dominant) g.128525419C>T g.128806576C>T - - RAB7A_000001 submitted through SIB; ExPASy_018722; The mutations results in enhanced MAPK/ERK signaling. {dbSNP121909078} PubMed: Verhoeven 2003 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Verhoeven 2003 - - - - - - - - - 1 SIB - Livia Famiglietti
+/. ? c.385C>T r.(?) p.Leu129Phe Unknown - NA g.128525419C>T g.128806576C>T - - RAB7A_000001 expression cloning COS-7 cells, mis-localized to ER excl., increased protein stability/turnover PubMed: BasuRay 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.399+12C>T r.(=) p.(=) Unknown - likely benign g.128525445C>T - RAB7A(NM_004637.6):c.399+12C>T - RAB7A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423C>G r.(=) p.(=) Parent #1 - benign g.128526409C>G g.128807566C>G - - RAB7A_000005 IPNM - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.423C>G r.(?) p.(Ala141=) Unknown - benign g.128526409C>G g.128807566C>G RAB7A(NM_004637.5):c.423C>G (p.A141=), RAB7A(NM_004637.6):c.423C>G (p.A141=) - RAB7A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.423C>G r.(?) p.(Ala141=) Unknown - benign g.128526409C>G - RAB7A(NM_004637.5):c.423C>G (p.A141=), RAB7A(NM_004637.6):c.423C>G (p.A141=) - RAB7A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.471G>C r.(?) p.(Lys157Asn) Unknown - likely pathogenic g.128526457G>C g.128807614G>C RAB7A(NM_004637.6):c.471G>C (p.K157N) - RAB7A_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.471G>C r.(?) p.(Lys157Asn) Unknown - pathogenic (dominant) g.128526457G>C g.128807614G>C - - RAB7A_000002 submitted through SIB; ExPASy_037887; The mutations results in enhanced MAPK/ERK signaling. {dbSNP121909081} PubMed: Meggouh 2006 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Meggouh 2006 - - - - - - - - - 1 SIB - Livia Famiglietti
+/. ? c.471G>C r.(?) p.Lys157Asn Unknown - NA g.128526457G>C g.128807614G>C - - RAB7A_000002 expression cloning COS-7 cells, mis-localized to ER excl., increased protein stability/turnover PubMed: BasuRay 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.474_476delinsAGT r.(?) p.(Ala159Val) Unknown - likely pathogenic (dominant) g.128526460_128526462delinsAGT g.128807617_128807619delinsAGT - - RAB7A_000013 - PubMed: Antoniadi 2015 - - Germline - - - - - DNA SEQ - 56-gene neuropathy panel CMT2 - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
+/. - c.482A>C r.(?) p.(Asn161Thr) Unknown - pathogenic g.128526468A>C g.128807625A>C RAB7A(NM_004637.6):c.482A>C (p.N161T) - RAB7A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.482A>C r.(?) p.(Asn161Thr) Unknown - pathogenic (dominant) g.128526468A>C g.128807625A>C - - RAB7A_000003 submitted through SIB; ExPASy_037888; The mutations results in enhanced MAPK/ERK signaling. {dbSNP121909080} PubMed: Houlden 2004 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Houlden 2004 - - - - - - - - - 1 SIB - Livia Famiglietti
+/. ? c.482A>C r.(?) p.Asn161Thr Unknown - NA g.128526468A>C g.128807625A>C - - RAB7A_000003 expression cloning COS-7 cells, mis-localized to ER excl., increased protein stability/turnover PubMed: BasuRay 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.484G>A r.(?) p.(Val162Met) Unknown - pathogenic g.128526470G>A g.128807627G>A RAB7A(NM_004637.6):c.484G>A (p.V162M) - RAB7A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. ? c.484G>A r.(?) p.(Val162Met) Unknown - pathogenic (dominant) g.128526470G>A g.128807627G>A - - RAB7A_000004 submitted through SIB; ExPASy_018723; The mutations results in enhanced MAPK/ERK signaling. {dbSNP121909079} PubMed: Verhoeven 2003 - - Germline - - - - - DNA SEQ - - CMT - PubMed: Verhoeven 2003 - - - - - - - - - 1 SIB - Livia Famiglietti
+/. ? c.484G>A r.(?) p.Val162Met Unknown - NA g.128526470G>A g.128807627G>A - - RAB7A_000004 expression cloning COS-7 cells, mis-localized to ER excl., increased protein stability/turnover PubMed: BasuRay 2010 - - In vitro (cloned) - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.484G>A r.(?) p.(Val162Met) Unknown - pathogenic (dominant) g.128526470G>A g.128807627G>A - - RAB7A_000004 - PubMed: Antoniadi 2015 - rs121909079 Germline - - - - - DNA SEQ - 56-gene neuropathy panel HSN Pat17 PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - - - - 1 Johan den Dunnen
-/. - c.529-300A>G r.(=) p.(=) Unknown - benign g.128531870A>G - RAB7A(NM_004637.6):c.529-300A>G - RAB7A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*179_*180del r.(=) p.(=) Unknown - benign g.128532444_128532445del g.128813601_128813602del RAB7A(NM_004637.6):c.*179_*180delAC - RAB7A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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