RGD:405684990 Rat Genome Database

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Variant: RGD:405684990 -  Homo sapiens

RGD ID: 405684990
ClinVar ID: CV3306467
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCA1  LOC124904210  
Reference Nucleotide: A
Variant Nucleotide: G
Position
Assembly Chr Position
GRCh37 1 86,964,420
GRCh38 1 86,498,737
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001285.4:c.2279A>G
NC_000001.11:g.86498737A>G
NC_000001.10:g.86964420A>G
NM_001285.3:c.2279A>G
More... 		12/22/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CLCA1
Accession:NM_001285
Location:EXON
Amino Acid Prediction: K to R (nonsynonymous)
Amino Acid Position: 760
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MGPFKSSVFILILHLLEGALSNSLIQLNNNGYEGIVVAIDPNVPEDETLIQQIKDMVTQASLYLLEATGKRFYFKNVAIL
IPETWKTKADYVRPKLETYKNADVLVAESTPPGNDEPYTEQMGNCGEKGERIHLTPDFIAGKKLAEYGPQGRAFVHEWAH
LRWGVFDEYNNDEKFYLSNGRIQAVRCSAGITGTNVVKKCQGGSCYTKRCTFNKVTGLYEKGCEFVLQSRQTEKASIMFA
QHVDSIVEFCTEQNHNKEAPNKQNQKCNLRSTWEVIRDSEDFKKTTPMTTQPPNPTFSLLQIGQRIVCLVLDKSGSMATG
NRLNRLNQAGQLFLLQTVELGSWVGMVTFDSAAHVQNELIQINSGSDRDTLAKRLPAAASGGTSICSGLRSAFTVIRKKY
PTDGSEIVLLTDGEDNTISGCFNEVKQSGAIIHTVALGPSAAQELEELSKMTGGLQTYASDQVQNNGLIDAFGALSSGNG
AVSQRSIQLESKGLTLQNSQWMNGTVIVDSTVGKDTLFLITWTMQPPQILLWDPSGQKQGGFVVDKNTKMAYLQIPGIAK
VGTWKYSLQASSQTLTLTVTSRASNATLPPITVTSKTNKDTSKFPSPLVVYANIRQGASPILRASVTALIESVNGKTVTL
ELLDNGAGADATKDDGVYSRYFTTYDTNGRYSVKVRALGGVNAARRRVIPQQSGALYIPGWIENDEIQWNPPRPEINKDD
VQHKQVCFSRTSSGGSFVASDVPNAPIPDLFPPGQITDLRAEIHGGSLINLTWTAPGDDYDHGTAHKYIIRISTSILDLR
DKFNESLQVNTTALIPKEANSEEVFLFKPENITFENGTDLFIAIQAVDKVDLKSEISNIARVSLFIPPQTPPETPSPDET
SAPCPNIHINSTIPGIHILKIMWKWIGELQLSIA*

Gene Symbol:LOC124904210
Accession:XR_007066206
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004444183 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CLCA1 CLINVAR
OMIM 603906 CLINVAR