RGD:329383166 Rat Genome Database

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Variant: RGD:329383166 -  Homo sapiens

RGD ID: 329383166
ClinVar ID: CV2441943
Genic Status: GENIC
Type: SNV (SO:0001483) 
Associated Genes: CALHM1  LOC124902494  
Reference Nucleotide: G
Variant Nucleotide: T
Position
Assembly Chr Position
GRCh37 10 105,215,099
GRCh38 10 103,455,342
JBrowse: View Region in Genome Browser (JBrowse)
Model



ClinVar Data
HGVS Name(s) Last Evaluated Molecular Consequence Clinical Significance Trait Synonyms
NM_001001412.4:c.961C>A
NG_016855.1:g.8550C>A
NC_000010.11:g.103455342G>T
NC_000010.10:g.105215099G>T
More... 		02/27/2023 missense variant uncertain significance AllHighlyPenetrant

Variant Details
Variant Transcripts
Gene Symbol:CALHM1
Accession:NM_001001412
Location:EXON
Amino Acid Prediction: P to T (nonsynonymous)
Amino Acid Position: 321
Amino Acid Sequence
(Calculated using NCBI transcript definition)
MMDKFRMIFQFLQSNQESFMNGICGIMALASAQMYSAFDFNCPCLPGYNAAYSAGILLAPPLVLFLLGLVMNNNVSMLAE
EWKRPLGRRAKDPAVLRYMFCSMAQRALIAPVVWVAVTLLDGKCFLCAFCTAVPVSALGNGSLAPGLPAPELARLLARVP
CPEIYDGDWLLAREVAVRYLRCISQALGWSFVLLTTLLAFVVRSVRPCFTQAAFLKSKYWSHYIDIERKLFDETCTEHAK
AFAKVCIQQFFEAMNHDLELGHTHGTLATAPASAAAPTTPDGAEEEREKLRGITDQGTMNRLLTSWHKCKPPLRLGQEEP
TLMGNGWAGGGPRPPRKEVATYFSKV*

Gene Symbol:LOC124902494
Accession:XR_007062275
Location:INTRON;NON-CODING

Variant Samples

Additional Information

Database Acc Id Source(s)
ClinVar RCV004262120 CLINVAR
MedGen CN169374 CLINVAR
NCBI Gene CALHM1 CLINVAR
OMIM 612234 CLINVAR