RGD:405816102 Rat Genome Database

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Variant: RGD:405816102 -  Homo sapiens

RGD ID: 405816102
ClinVar ID: CV3281057
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: LYZL6  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 17 34,266,350
GRCh38 17 35,939,346
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001199951.3:c.11C>T
NM_020426.4:c.11C>T
NC_000017.11:g.35939346G>A
NC_000017.10:g.34266350G>A
More... 		12/26/2023 missense variant likely benign AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:LYZL6
Accession:NM_001199951
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTKVLLIYLVSSFLALNQASLISRCDLAQVLQLEDLDGFEGYSLSDWLCLAFVESKFNISKINENADGSFDYGLFQINSH
YWCNDYKSYSENLCHVDCQDLLNPNLLAGIHCAKRIVSGARGMNNWVEWRLHCSGRPLFYWLTGCRLR*

Gene Symbol:LYZL6
Accession:NM_020426
Location:EXON
Amino Acid Prediction: A to V (nonsynonymous)
Amino Acid Position: 4
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MTKVLLIYLVSSFLALNQASLISRCDLAQVLQLEDLDGFEGYSLSDWLCLAFVESKFNISKINENADGSFDYGLFQINSH
YWCNDYKSYSENLCHVDCQDLLNPNLLAGIHCAKRIVSGARGMNNWVEWRLHCSGRPLFYWLTGCRLR*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004411111 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene LYZL6 CLINVAR
OMIM 612751 CLINVAR