RGD:15145231 Rat Genome Database

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Variant: RGD:15145231 -  Homo sapiens

RGD ID: 15145231
RS ID: rs78824969
ClinVar ID: CV692301
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: YWHAG  
Reference Nucleotide: G
Variant Nucleotide: A
Position
Assembly Chr Position
GRCh37 7 75,959,029
GRCh38 7 76,329,712
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_012479.4:c.609C>T
NM_012479.3:c.609C>T
NP_036611.2:p.Asp203=
NC_000007.14:g.76329712G>A
More... 		11/01/2022 synonymous variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:YWHAG
Accession:NM_012479
Location:EXON
Amino Acid Prediction: D to D (synonymous)
Amino Acid Position: 203
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MVDREQLVQKARLAEQAERYDDMAAAMKNVTELNEPLSNEERNLLSVAYKNVVGARRSSWRVISSIEQKTSADGNEKKIE
MVRAYREKIEKELEAVCQDVLSLLDNYLIKNCSETQYESKVFYLKMKGDYYRYLAEVATGEKRATVVESSEKAYSEAHEI
SKEHMQPTHPIRLGLALNYSVFYYEIQNAPEQACHLAKTAFDDAIAELDTLNEDSYKDSTLIMQLLRDNLTLWTSDQQDD
DGGEGNN*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV000878347 CLINVAR
  RCV003908362 CLINVAR
dbSNP (RS) rs78824969 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene YWHAG CLINVAR
OMIM 605356 CLINVAR