RGD:405080334 Rat Genome Database

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Variant: RGD:405080334 -  Homo sapiens

RGD ID: 405080334
ClinVar ID: CV3050466
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: NHERF1  SLC9A3R1-AS1  
Reference Nucleotide: G
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 17 72,745,150
GRCh38 17 74,749,011
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.165G>C
NG_137513.1:g.46G>C
NG_013022.1:g.5388G>C
NC_000017.11:g.74749011G>C
More... 		01/04/2024 synonymous variant likely benign none provided

Variant Details
Variant Transcripts
Gene Symbol:NHERF1
Accession:NM_004252
Location:EXON
Amino Acid Prediction: A to A (synonymous)
Amino Acid Position: 55
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MSADAAAGAPLPRLCCLEKGPNGYGFHLHGEKGKLGQYIRLVEPGSPAEKAGLLAGDRLVEVNGENVEKETHQQVVSRIR
AALNAVRLLVVDPETDEQLQKLGVQVREELLRAQEAPGQAEPPAAAEVQGAGNENEPREADKSHPEQRELRPRLCTMKKG
PSGYGFNLHSDKSKPGQFIRSVDPDSPAEASGLRAQDRIVEVNGVCMEGKQHGDVVSAIRAGGDETKLLVVDRETDEFFK
KCRVIPSQEHLNGPLPVPFTNGEIQKENSREALAEAALESPRPALVRSASSDTSEELNSQDSPPKQDSTAPSSTSSSDPI
LDFNISLAMAKERAHQKRSSKRAPQMDWSKKNELFSNL*

Gene Symbol:SLC9A3R1-AS1
Accession:NR_187307
Location:INTRON;NON-CODING

Variant Samples
Additional References at PubMed
PMID:28492532  


Additional Information

Database Acc Id Source(s)
ClinVar RCV003717087 CLINVAR
MedGen C3661900 CLINVAR
NCBI Gene NHERF1 CLINVAR
  SLC9A3R1-AS1 CLINVAR
OMIM 604990 CLINVAR