RGD:405768902 Rat Genome Database

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Variant: RGD:405768902 -  Homo sapiens

RGD ID: 405768902
ClinVar ID: CV3248484
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: EFCAB14  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 47,183,599
GRCh38 1 46,717,927
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_014774.3:c.161T>C
NC_000001.11:g.46717927A>G
NC_000001.10:g.47183599A>G
NM_014774.2:c.161T>C
More... 		12/14/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:EFCAB14
Accession:NM_014774
Location:EXON
Amino Acid Prediction: V to A (nonsynonymous)
Amino Acid Position: 54
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MKKRKELNALIGLAGDSRRKKPKKGPSSHRLLRTEPPDSDSESSSEEEEEFGVAGNRSRFAKGDYLRCCKICYPLCGFVI
LAACVVACVGLVWMQVALKEDLDALKEKFRTMESNQKSSFQEIPKLNEELLSKQKQLEKIESGEMGLNKVWINITEMNKQ
ISLLTSAVNHLKANVKSAADLISLPTTVEGLQKSVASIGNTLNSVHLAVEALQKTVDEHKKTMELLQSDMNQHFLKETPG
SNQIIPSPSATSELDNKTHSENLKQDILYLHNSLEEVNSALVGYQRQNDLKLEGMNETVSNLTQRVNLIESDVVAMSKVE
KKANLSFSMMGDRSATLKRQSLDQVTNRTDTVKIQSIKKEDSSNSQVSKLREKLQLISALTNKPESNRPPETADEEQVES
FTSKPSALPKFSQFLGDPVEKAAQLRPISLPGVSSTEDLQDLFRKTGQDVDGKLTYQEIWTSLGSAMPEPESLRAFDSDG
DGRYSFLELRVALGI*
Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004384777 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene EFCAB14 CLINVAR
OMIM 619559 CLINVAR