RGD:405810717 Rat Genome Database

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Variant: RGD:405810717 -  Homo sapiens

RGD ID: 405810717
ClinVar ID: CV3345642
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATG7  VGLL4  
Reference Nucleotide: C
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 3 11,606,399
GRCh38 3 11,564,925
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000003.11:g.11606399C>T
NM_001128219.1:c.367G>A
NP_055482.2:p.Gly117Ser
NP_001271319.1:p.Gly122Ser
More... 		02/06/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:VGLL4
Accession:XM_024453835
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSRI
FNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPTLTPGERQQN
RPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDDH
FAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_047449259
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKLRLQPGMETPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDN
DHVSKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPT
LTPGERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSV
SITGSVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_047449262
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 126
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKLRLQPGMETPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDN
DHVSKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPT
LTPGERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSATCV*

Gene Symbol:VGLL4
Accession:XM_024453837
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSRI
FNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPTLTPGERQQN
RPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSATCV*

Gene Symbol:VGLL4
Accession:NM_001128221
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 33
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPTLTPGERQQNRPSV
ITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDDHFAKA
LGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_011534269
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGDEDLDCDNDHVSKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNS
LDASRPAGLSPTLTPGERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGK
NYKEPEPAPNSVSITGSVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:NM_014667
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSRI
FNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPTLTPGERQQN
RPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDDH
FAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_047449261
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGDEDLDCDNDHVSKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNS
LDASRPAGLSPTLTPGERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGK
NYKEPEPAPNSVSITGSVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:NM_001284390
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 122
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTENTHFDKIPESCALKSWRHPGLHHGEAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVS
KMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPTLTPG
ERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITG
SVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_024453836
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 117
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSRI
FNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPTLTPGERQQN
RPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDDH
FAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:NM_001128220
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 37
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIKVRNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPTLTPGERQQN
RPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDDH
FAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_047449260
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 118
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTENTHFDKIPESCALKSWRHPGEAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSR
IFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPTLTPGERQQ
NRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDD
HFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_047449263
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFMKMDLLNYQYLDKMNNNIGILCYEGEAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHV
SKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPTLTP
GERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSATCV*

Gene Symbol:VGLL4
Accession:NM_001128219
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 123
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFMKMDLLNYQYLDKMNNNIGILCYEGEAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHV
SKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNSLDASRPAGLSPTLTP
GERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSIT
GSVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:NM_001284391
Location:EXON
Amino Acid Prediction: G to C (nonsynonymous)
Amino Acid Position: 58
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGDEDLDCDNDHVSKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHCSHLYTSLPSLGLEQPLALTKNS
LDASRPAGLSPTLTPGERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGK
NYKEPEPAPNSVSITGSVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:ATG7
Accession:XR_007095622
Location:EXON;NON-CODING

Gene Symbol:ATG7
Accession:XR_007095623
Location:EXON;NON-CODING

Gene Symbol:ATG7
Accession:NM_006395
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349238
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349235
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447300
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447295
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349237
Location:INTRON

Gene Symbol:ATG7
Accession:XM_017005542
Location:INTRON

Gene Symbol:ATG7
Accession:XM_017005543
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349233
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349234
Location:INTRON

Gene Symbol:ATG7
Accession:XM_017005550
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447294
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447306
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447307
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447308
Location:INTRON

Gene Symbol:ATG7
Accession:XM_017005548
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447301
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001136031
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001144912
Location:INTRON

Gene Symbol:ATG7
Accession:XM_006712931
Location:INTRON

Gene Symbol:ATG7
Accession:XM_011533277
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349232
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447304
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447309
Location:INTRON

Gene Symbol:ATG7
Accession:XM_024453312
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447303
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447305
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447298
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447297
Location:INTRON

Gene Symbol:ATG7
Accession:XM_017005551
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349236
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447293
Location:INTRON

Gene Symbol:ATG7
Accession:XM_006712932
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447296
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447302
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447299
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004482412 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ATG7 CLINVAR
  VGLL4 CLINVAR
OMIM 608760 CLINVAR
  618692 CLINVAR