RGD:156346699 Rat Genome Database

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Variant: RGD:156346699 -  Homo sapiens

RGD ID: 156346699
ClinVar ID: CV2305441
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: SHISA7  
Reference Nucleotide: T
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 19 55,944,947
GRCh38 19 55,433,580
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001145176.2:c.1193A>G
NC_000019.10:g.55433580T>C
NC_000019.9:g.55944947T>C
NM_001145176.1:c.1193A>G
More... 		11/08/2022 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:SHISA7
Accession:NM_001145176
Location:EXON
Amino Acid Prediction: Y to C (nonsynonymous)
Amino Acid Position: 398
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MPALLLLVLLASSAGQARARPSNATSAEPAGPLPALLAHLRRLTGALTGGGGAASPGANGTRTGPAGGAGAAARAPPPAE
LCHGYYDVMGQYDATFNCSTGSYRFCCGTCHYRFCCEHRHMRLAQASCSNYDTPRWATTPPPLAGGAGGAGGAGGGPGPG
QAGWLEGGRTGGAGGRGGEGPGGSTAYVVCGVISFALAVGVGAKVAFSKASRAPRAHRDINVPRALVDILRHQAGPGTRP
DRARSSSLTPGIGGPDSMPPRTPKNLYNTVKTPNLDWRALPPPSPSLHYSTLSCSRSFHNLSHLPPSYEAAVKSELNRYS
SLKRLAEKDLDEAYLKRRPLELPRGTLPLHALRRPGTGGGYRMEAWGGPEELGLAPAPNPRRVMSQEHLLGDGGRSRCEF
TLPRARLVSQEHLLLSSPEALRQSREHLLSPPRSPALPPDPTARASLAASHSNLLLGPGGPPTPLRGLPPPSSLHAHHHH
ALHGSPQPAWMSDAGGGGGTLARRPPFQRQGTLEQLQFIPGHHLPQHLRTASKNEVTV*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004165164 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene SHISA7 CLINVAR
OMIM 617328 CLINVAR