Unique variants in the TRPV3 gene

Information The variants shown are described using the NM_145068.3 transcript reference sequence.

33 entries on 1 page. Showing entries 1 - 33.
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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 - c.73A>G r.(?) p.(Ile25Val) - benign g.3458072T>C g.3554778T>C TRPV3(NM_001258205.2):c.73A>G (p.I25V) - TRPV3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.109A>C r.(?) p.(Thr37Pro) - VUS g.3458036T>G g.3554742T>G TRPV3(NM_001258205.2):c.109A>C (p.T37P) - TRPV3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.270G>A r.(?) p.(Gln90=) - benign g.3447914C>T g.3544620C>T TRPV3(NM_001258205.2):c.270G>A (p.Q90=) - TRPV3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.558A>C r.(?) p.(Ile186=) - benign g.3445901T>G g.3542607T>G TRPV3(NM_001258205.2):c.558A>C (p.I186=) - TRPV3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.592G>A r.(?) p.(Asp198Asn) - likely benign g.3445867C>T g.3542573C>T TRPV3(NM_001258205.1):c.592G>A (p.(Asp198Asn)) - TRPV3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1105C>T r.(?) p.(Arg369Trp) - likely benign g.3433458G>A g.3530164G>A - - TRPV3_000014 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs116535534 Germline - 2/2792 individuals - - - Mohammed Faruq
-?/. 1 - c.1182C>T r.(?) p.(Asn394=) - likely benign g.3433381G>A - TRPV3(NM_001258205.1):c.1182C>T (p.N394=) - TRPV3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1435A>T r.(?) p.(Met479Leu) - likely benign g.3431387T>A g.3528093T>A TRPV3(NM_001258205.1):c.1435A>T (p.(Met479Leu)) - TRPV3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.1717G>A r.(?) p.(Gly573Ser) - pathogenic g.3427518C>T g.3524224C>T - - TRPV3_000001 submitted through SIB; ExPASy_067921; causes constitutive channel activation PubMed: Lin 2012 - - Germline - - - - - SIB - Livia Famiglietti
+/. 1 - c.1717G>T r.(?) p.(Gly573Cys) - pathogenic g.3427518C>A g.3524224C>A - - TRPV3_000002 submitted through SIB; ExPASy_067920; causes constitutive channel activation PubMed: Lin 2012 - - Germline - - - - - SIB - Livia Famiglietti
+/. 1 - c.1718G>A r.(?) p.(Gly573Asp) - pathogenic g.3427517C>T - TRPV3(NM_145068.4):c.1718G>A (p.G573D) - TRPV3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1878C>T r.(?) p.(Ser626=) - benign g.3422077G>A g.3518783G>A TRPV3(NM_001258205.2):c.1878C>T (p.S626=) - TRPV3_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.1882G>A r.(?) p.(Ala628Thr) - likely benign g.3422073C>T g.3518779C>T TRPV3(NM_001258205.1):c.1882G>A (p.(Ala628Thr)) - ASPA_018111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1923C>T r.(?) p.(Asp641=) - benign g.3422032G>A g.3518738G>A TRPV3(NM_001258205.2):c.1923C>T (p.D641=) - TRPV3_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.2074T>G r.(?) p.(Trp692Gly) - pathogenic g.3421881A>C g.3518587A>C - - TRPV3_000003 submitted through SIB; ExPASy_067922; causes constitutive channel activation PubMed: Lin 2012 - - Germline - - - - - SIB - Livia Famiglietti
-?/. 1 - c.2279-9A>T r.(=) p.(=) - likely benign g.3417314T>A g.3514020T>A TRPV3(NM_001258205.1):c.2279-6A>T (p.(=)) - ASPA_018110 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*2729A>G r.(=) p.(=) - likely benign g.3414482T>C g.3511188T>C - - TRPV3_000013 30 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs118043532 Germline - 30/2792 individuals - - - Mohammed Faruq
+/. 1 - c.*14857G>T r.(=) p.(=) - pathogenic g.3402354C>A g.3499060C>A ASPA(NM_000049.3):c.914C>A (p.A305E) - ASPA_008008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.*14917T>G r.(=) p.(=) - pathogenic g.3402294A>C g.3499000A>C ASPA(NM_000049.3):c.854A>C (p.E285A) - ASPA_008006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*14931G>A r.(=) p.(=) - likely benign g.3402280C>T g.3498986C>T ASPA(NM_000049.3):c.840C>T (p.P280=) - ASPA_018112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*19499C>T r.(=) p.(=) - benign g.3397712G>A g.3494418G>A ASPA(NM_000049.3):c.703G>A (p.E235K) - ASPA_008014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*19509G>A r.(=) p.(=) - benign g.3397702C>T g.3494408C>T ASPA(NM_000049.3):c.693C>T (p.Y231=) - ASPA_008012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.*19509G>C r.(=) p.(=) - pathogenic g.3397702C>G g.3494408C>G ASPA(NM_000049.3):c.693C>G (p.Y231*) - ASPA_008013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+/. 1 - c.*19509G>T r.(=) p.(=) - pathogenic g.3397702C>A g.3494408C>A ASPA(NM_000049.3):c.693C>A (p.Y231*) - ASPA_008005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.*24599C>G r.(=) p.(=) - VUS g.3392612G>C - ASPA(NM_000049.3):c.610G>C (p.D204H) - ASPA_018041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 3 - c.*30342A>G r.(=) p.(=) - VUS g.3386869T>C g.3483575T>C ASPA(NM_000049.3):c.509T>C (p.I170T) - ASPA_008015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.*30357G>A r.(=) p.(=) - VUS g.3386854C>T - ASPA(NM_000049.3):c.494C>T (p.A165V) - ASPA_018115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.*30420T>C r.(=) p.(=) - pathogenic g.3386791A>G g.3483497A>G ASPA(NM_000049.3):c.433-2A>G - ASPA_008011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.*32257A>G r.(=) p.(=) - likely benign g.3384954T>C - ASPA(NM_000049.3):c.294T>C (p.H98=) - ASPA_018114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*32291G>A r.(=) p.(=) - VUS g.3384920C>T g.3481626C>T ASPA(NM_000049.2):c.260C>T (p.(Pro87Leu)) - ASPA_008010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*37679C>T r.(=) p.(=) - VUS g.3379532G>A g.3476238G>A ASPA(NM_000049.3):c.79G>A (p.G27R) - ASPA_018016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*37748A>G r.(=) p.(=) - likely benign g.3379463T>C g.3476169T>C ASPA(NM_000049.3):c.10T>C (p.C4R) - ASPA_008009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*42237_*42238del r.(=) p.(=) - likely benign g.3374975_3374976del g.3471681_3471682del SPATA22(NM_001170698.1):c.-74+2_-74+3del (p.(=)) - ASPA_018109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
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