RGD:329401280 Rat Genome Database

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Variant: RGD:329401280 -  Homo sapiens

RGD ID: 329401280
ClinVar ID: CV2442284
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CLCA1  LOC124904210  
Reference Nucleotide: A
Variant Nucleotide: C
Position
Assembly Chr Position
GRCh37 1 86,964,419
GRCh38 1 86,498,736
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NC_000001.11:g.86498736A>C
NC_000001.10:g.86964419A>C
NM_001285.3:c.2278A>C
NP_001276.3:p.Lys760Gln
More... 		01/06/2023 missense variant uncertain significance AllHighlyPenetrant

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

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

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004264765 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CLCA1 CLINVAR
OMIM 603906 CLINVAR