RGD:405810721 Rat Genome Database

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Variant: RGD:405810721 -  Homo sapiens

RGD ID: 405810721
ClinVar ID: CV3345644
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: ATG7  VGLL4  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 3 11,606,342
GRCh38 3 11,564,868
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001128221.3:c.154A>G
NM_001128220.3:c.166A>G
NM_001284391.1:c.229A>G
NM_014667.4:c.406A>G
More... 		01/17/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:VGLL4
Accession:XM_024453837
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSRI
FNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPTLTPGERQQN
RPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSATCV*

Gene Symbol:VGLL4
Accession:XM_047449262
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKLRLQPGMETPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDN
DHVSKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPT
LTPGERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSATCV*

Gene Symbol:VGLL4
Accession:NM_001284391
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGDEDLDCDNDHVSKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNS
LDASRPAGLSPTLTPGERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGK
NYKEPEPAPNSVSITGSVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_047449259
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 145
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRKLRLQPGMETPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDN
DHVSKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPT
LTPGERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSV
SITGSVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_047449261
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGDEDLDCDNDHVSKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNS
LDASRPAGLSPTLTPGERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGK
NYKEPEPAPNSVSITGSVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_047449263
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFMKMDLLNYQYLDKMNNNIGILCYEGEAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHV
SKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPTLTP
GERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSATCV*

Gene Symbol:VGLL4
Accession:NM_014667
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSRI
FNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPTLTPGERQQN
RPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDDH
FAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:NM_001128219
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 142
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MLFMKMDLLNYQYLDKMNNNIGILCYEGEAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHV
SKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPTLTP
GERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSIT
GSVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:NM_001284390
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 141
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTENTHFDKIPESCALKSWRHPGLHHGEAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVS
KMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPTLTPG
ERQQNRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITG
SVDDHFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:NM_001128221
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 52
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPTLTPGERQQNRPSV
ITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDDHFAKA
LGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_047449260
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTENTHFDKIPESCALKSWRHPGEAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSR
IFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPTLTPGERQQ
NRPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDD
HFAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:NM_001128220
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 56
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MIKVRNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPTLTPGERQQN
RPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDDH
FAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_024453835
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSRI
FNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPTLTPGERQQN
RPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDDH
FAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_024453836
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 136
Amino Acid Sequence
(Calculated using NCBI transcript definition)
METPLDVLSRAASLVHADDEKREAALRGEPRIQTLPVASALSSHRTGPPPISPSKRKFSMEPGDEDLDCDNDHVSKMSRI
FNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNSLDASRPAGLSPTLTPGERQQN
RPSVITCASAGARNCNLSHCPIAHSGCAAPGPASYRRPPSAATTCDPVVEEHFRRSLGKNYKEPEPAPNSVSITGSVDDH
FAKALGDTWLQIKAAKDGASSSPESASRRGQPASPSAHMVSHSHSPSVVS*

Gene Symbol:VGLL4
Accession:XM_011534269
Location:EXON
Amino Acid Prediction: T to P (nonsynonymous)
Amino Acid Position: 77
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MEPGDEDLDCDNDHVSKMSRIFNPHLNKTANGDCRRDPRERSRSPIERAVAPTMSLHGSHLYTSLPSLGLEQPLALPKNS
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_001136031
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349233
Location:INTRON

Gene Symbol:ATG7
Accession:XM_006712932
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349236
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447295
Location:INTRON

Gene Symbol:ATG7
Accession:XM_011533277
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349234
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447304
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447299
Location:INTRON

Gene Symbol:ATG7
Accession:NM_006395
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349235
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447307
Location:INTRON

Gene Symbol:ATG7
Accession:XM_017005550
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447296
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447302
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447303
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447300
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447298
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447297
Location:INTRON

Gene Symbol:ATG7
Accession:XM_017005548
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447301
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447294
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447308
Location:INTRON

Gene Symbol:ATG7
Accession:XM_017005543
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349232
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349237
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001144912
Location:INTRON

Gene Symbol:ATG7
Accession:XM_006712931
Location:INTRON

Gene Symbol:ATG7
Accession:XM_017005551
Location:INTRON

Gene Symbol:ATG7
Accession:XM_017005542
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447309
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447305
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447293
Location:INTRON

Gene Symbol:ATG7
Accession:NM_001349238
Location:INTRON

Gene Symbol:ATG7
Accession:XM_024453312
Location:INTRON

Gene Symbol:ATG7
Accession:XM_047447306
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004482414 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene ATG7 CLINVAR
  VGLL4 CLINVAR
OMIM 608760 CLINVAR
  618692 CLINVAR