RGD:405750315 Rat Genome Database

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Variant: RGD:405750315 -  Homo sapiens

RGD ID: 405750315
ClinVar ID: CV3254558
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALNTL6  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 4 173,269,738
GRCh38 4 172,348,587
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001034845.3:c.451G>C
NC_000004.12:g.172348587G>C
NC_000004.11:g.173269738G>C
NR_002782.1:n.400G>C
More... 		02/12/2024 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GALNTL6
Accession:XM_017008244
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 159
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MHTFTSFIVTTSSRWAVYPNPFTSQMRAKFRAGAGHQRNPSISADHGVHELVYQTFPLGLGDGQFYSWTDGLRRKDWHDY
ESIQKEAMRSGKGEHGKPYPLTEEDHDDSAYRENGFNIFVSNNIALERSLPDIRHANCKHKMYLERLPNTSIIIPFHNQG
WTSLLRTIHSIINRTPGSLIAEIILVDDFSEREHLKDKLEEYMARFSKVRIVRTKKREGLIRTRLLGASMARGEVLTFLD
SHCEVNVNWLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQAGDAMRGAFDWEMYYKRIPIPPELQRADPSDPFESPVM
AGGLFAVDRKWFWELGGYDPGLEIWGGEQYEISFKVWMCGGEMFDVPCSRVGHIYRKYVPYKVPSGTSLARNLKRVAETW
MDEFAEYIYQRRPEYRHLSTGDISAQKELRKQLKCKDFKWFMAAVAWDVPKYYPPVEPPPAAWGEIRNVAANLCVDSKHG
ATGTELRLDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGYRKDRTLFH
PVSNSCMDCNPAEKKIFMARCDPLSETQQWIFEHINMTVLEKFNHHANS*

Gene Symbol:GALNTL6
Accession:XM_011531993
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 72
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MRSGKGEHGKPYPLTEEDHDDSAYRENGFNIFVSNNIALERSLPDIRHANCKHKMYLERLPNTSIIIPFHNQGWTSLLRT
IHSIINRTPGSLIAEIILVDDFSEREHLKDKLEEYMARFSKVRIVRTKKREGLIRTRLLGASMARGEVLTFLDSHCEVNV
NWLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQAGDAMRGAFDWEMYYKRIPIPPELQRADPSDPFESPVMAGGLFAV
DRKWFWELGGYDPGLEIWGGEQYEISFKVWMCGGEMFDVPCSRVGHIYRKYVPYKVPSGTSLARNLKRVAETWMDEFAEY
IYQRRPEYRHLSTGDISAQKELRKQLKCKDFKWFMAAVAWDVPKYYPPVEPPPAAWGEIRNVAANLCVDSKHGATGTELR
LDICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGYRKDRTLFHPVSNSCM
DCNPAEKKIFMARCDPLSETQQWIFEHINMTVLEKFNHHANS*

Gene Symbol:GALNTL6
Accession:NM_001034845
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRKQKRFLQMTLLFTVALIFLPNVGLWSLYKDKHLVKSAEPGEQQTFPLGLGDGQFYSWTDGLRRKDWHDYESIQKEAM
RSGKGEHGKPYPLTEEDHDDSAYRENGFNIFVSNNIALERSLPDIRHANCKHKMYLERLPNTSIIIPFHNQGWTSLLRTI
HSIINRTPGSLIAEIILVDDFSEREHLKDKLEEYMARFSKVRIVRTKKREGLIRTRLLGASMARGEVLTFLDSHCEVNVN
WLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQAGDAMRGAFDWEMYYKRIPIPPELQRADPSDPFESPVMAGGLFAVD
RKWFWELGGYDPGLEIWGGEQYEISFKVWMCGGEMFDVPCSRVGHIYRKYVPYKVPSGTSLARNLKRVAETWMDEFAEYI
YQRRPEYRHLSTGDISAQKELRKQLKCKDFKWFMAAVAWDVPKYYPPVEPPPAAWGEIRNVAANLCVDSKHGATGTELRL
DICVKDGSERTWSHEQLFTFGWREDIRPGEPLHTRKFCFDAISHNSPVTLYDCHGMKGNQLWGYRKDRTLFHPVSNSCMD
CNPAEKKIFMARCDPLSETQQWIFEHINMTVLEKFNHHANS*

Gene Symbol:GALNTL6
Accession:XM_017008243
Location:EXON
Amino Acid Prediction: E to Q (nonsynonymous)
Amino Acid Position: 151
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKRKQKRFLQMTLLFTVALIFLPNVGLWSLYKDKHLVKSAEPGEQQTFPLGLGDGQFYSWTDGLRRKDWHDYESIQKEAM
RSGKGEHGKPYPLTEEDHDDSAYRENGFNIFVSNNIALERSLPDIRHANCKHKMYLERLPNTSIIIPFHNQGWTSLLRTI
HSIINRTPGSLIAEIILVDDFSEREHLKDKLEEYMARFSKVRIVRTKKREGLIRTRLLGASMARGEVLTFLDSHCEVNVN
WLPPLLNQIALNHKTIVCPMIDVIDHNHFGYEAQAGDAMRGAFDWEMYYKRIPIPPELQRADPSDPFESPVMAGGLFAVD
RKWFWELGGYDPGLEIWGGEQYEISFKVWMCGGEMFDVPCSRVGHIYRKYVPYKVPSGTSLARKRNR*

Gene Symbol:GALNTL6
Accession:XM_011531997
Location:INTRON

Gene Symbol:GALNTL6
Accession:XM_011531995
Location:INTRON

Gene Symbol:GALNTL6
Accession:XM_011531996
Location:INTRON

Gene Symbol:GALNTL6
Accession:XM_011531994
Location:INTRON

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004392638 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GALNTL6 CLINVAR
OMIM 615138 CLINVAR