RGD:127283374 Rat Genome Database

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Variant: RGD:127283374 -  Homo sapiens

RGD ID: 127283374
RS ID: rs141613848
ClinVar ID: CV1083560
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NHERF1  
Reference Nucleotide: A
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 17 72,764,620
GRCh38 17 74,768,481
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_004252.5:c.902A>T
NG_013022.1:g.24858A>T
NC_000017.11:g.74768481A>T
NC_000017.10:g.72764620A>T
More... 		06/01/2023 missense variant benign|likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NHERF1
Accession:NM_004252
Location:EXON
Amino Acid Prediction: D to V (nonsynonymous)
Amino Acid Position: 301
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIR
AALNAVRLLVVDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQRELRPRLCTMKKG
PSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFK
KCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQVSPPKQDSTAPSSTSSSDPI
LDFNISLAMAKERAHQKRSSKRAPQMDWSKKNELFSNL*
Variant Samples
Additional References at PubMed
PMID:25741868   PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV001411748 CLINVAR
  RCV003973248 CLINVAR
dbSNP (RS) rs141613848 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene SLC9A3R1 CLINVAR
OMIM 604990 CLINVAR