RGD:401727843 Rat Genome Database

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Variant: RGD:401727843 -  Homo sapiens

RGD ID: 401727843
ClinVar ID: CV2678508
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHISA7  
Reference Nucleotide: C
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 19 55,945,064
GRCh38 19 55,433,697
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145176.1:c.1076G>T
NP_001138648.1:p.Gly359Val
NM_001145176.2:c.1076G>T
NC_000019.10:g.55433697C>A
More... 		04/07/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SHISA7
Accession:NM_001145176
Location:EXON
Amino Acid Prediction: G to V (nonsynonymous)
Amino Acid Position: 359
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALLLLVLLASSAGQARARPSNATSAEPAGPLPALLAHLRRLTGALTGGGGAASPGANGTRTGPAGGAGAAARAPPPAE
LCHGYYDVMGQYDATFNCSTGSYRFCCGTCHYRFCCEHRHMRLAQASCSNYDTPRWATTPPPLAGGAGGAGGAGGGPGPG
QAGWLEGGRTGGAGGRGGEGPGGSTAYVVCGVISFALAVGVGAKVAFSKASRAPRAHRDINVPRALVDILRHQAGPGTRP
DRARSSSLTPGIGGPDSMPPRTPKNLYNTVKTPNLDWRALPPPSPSLHYSTLSCSRSFHNLSHLPPSYEAAVKSELNRYS
SLKRLAEKDLDEAYLKRRPLELPRGTLPLHALRRPGTGVGYRMEAWGGPEELGLAPAPNPRRVMSQEHLLGDGGRSRYEF
TLPRARLVSQEHLLLSSPEALRQSREHLLSPPRSPALPPDPTARASLAASHSNLLLGPGGPPTPLRGLPPPSSLHAHHHH
ALHGSPQPAWMSDAGGGGGTLARRPPFQRQGTLEQLQFIPGHHLPQHLRTASKNEVTV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004292522 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SHISA7 CLINVAR
OMIM 617328 CLINVAR