RGD:156336939 Rat Genome Database

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Variant: RGD:156336939 -  Homo sapiens

RGD ID: 156336939
ClinVar ID: CV2342979
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: GALNT8  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 12 4,835,896
GRCh38 12 4,726,730
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_017417.2:c.410A>G
NC_000012.12:g.4726730A>G
NC_000012.11:g.4835896A>G
NM_017417.1:c.410A>G
More... 		07/21/2021 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:GALNT8
Accession:NM_017417
Location:EXON
Amino Acid Prediction: Q to R (nonsynonymous)
Amino Acid Position: 137
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMFWRKLPKALFIGLTLAIAVNLLLVFSSKGTLQNLFTGGLHRELPLHLNKRYGAVIKRLSHLEVELQDLKESMKLALRQ
QENVNSTLKRAKDEVRPLLKAMETKVNETKKHKTQMKLFPHSQLFRQWGEDLSEAQRKAAQDLFRKFGYNAYLSNQLPLN
RTIPDTRDYRCLRKTYPSQLPSLSVILIFVNEALSIIQRAITSIINRTPSRLLKEIILVDDFSSNGELKVHLDEKIKLYN
QKYPGLLKIIRHPERKGLAQARNTGWEAATADVVAILDAHIEVNVGWAEPILARIQEDRTVIVSPVFDNIRFDTFKLDKY
ELAVDGFNWELWCRYDALPQAWIDLHDVTAPVKSPSIMGILAANRHFLGEIGSLDGGMLIYGGENVELSLRVWQCGGKVE
ILPCSRIAHLERHHKPYALDLTAALKRNALRVAEIWMDEHKHMVYLAWNIPLQNSGIDFGDVSSRMALREKLKCKTFDWY
LKNVYPLLKPLHTIVGYGRMKNLLDENVCLDQGPVPGNTPIMYYCHEFSSQNVYYHLTGELYVGQLIAEASASDRCLTDP
GKAEKPTLEPCSKAAKNRLHIYWDFKPGGAVINRDTKRCLEMKKDLLGSHVLVLQTCSTQVWEIQHTVRDWGQTNSQ*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004192583 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene GALNT8 CLINVAR
OMIM 606250 CLINVAR