RGD:155704217 Rat Genome Database

RGD:155704217 Rat Genome Database

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Variant: RGD:155704217 - Homo sapiens

RGD ID:

155704217

ClinVar ID:

CV1810648

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

A

Variant Nucleotide:

G

Position

Assembly	Chr	Position
GRCh37	14	90,867,625
GRCh38	14	90,401,281

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001363670.2:c.60A>G NG_013338.1:g.9299A>G NC_000014.9:g.90401281A>G NC_000014.8:g.90867625A>G More...	01/24/2020	5 prime utr variant	likely benign

Gene Symbol:	CALM1
Accession:	NM_001363669
Location:	5UTRS;EXON

Gene Symbol:	CALM1
Accession:	NM_006888
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	19

Amino Acid Sequence (Calculated using NCBI transcript definition)
MADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKDT DSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

Gene Symbol:	CALM1
Accession:	NM_001363670
Location:	EXON
Amino Acid Prediction:	L to L (synonymous)
Amino Acid Position:	20

Amino Acid Sequence (Calculated using NCBI transcript definition)
MQADQLTEEQIAEFKEAFSLFDKDGDGTITTKELGTVMRSLGQNPTEAELQDMINEVDADGNGTIDFPEFLTMMARKMKD TDSEEEIREAFRVFDKDGNGYISAAELRHVMTNLGEKLTDEEVDEMIREADIDGDGQVNYEEFVQMMTAK*

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV002359837	CLINVAR
MedGen	CN230736	CLINVAR
NCBI Gene	CALM1	CLINVAR
OMIM	114180	CLINVAR