RGD:156151899 Rat Genome Database

RGD:156151899 Rat Genome Database

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Variant: RGD:156151899 - Homo sapiens

RGD ID:

156151899

ClinVar ID:

CV2209315

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

Reference Nucleotide:

G

Variant Nucleotide:

A

Position

Assembly	Chr	Position
GRCh37	7	137,593,146
GRCh38	7	137,908,400

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_001318246.2:c.431C>T NM_194071.4:c.620C>T NC_000007.14:g.137908400G>A NC_000007.13:g.137593146G>A More...	11/12/2021	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	CREB3L2
Accession:	NM_194071
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	207

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEVLESGEQGVLQWDRKLSELSEPGDGEALMYHTHFSELLDEFSQNVLGQLLNDPFLSEKSVSMEVEPSPTSPAPLIQAE HSYSLCEEPRAQSPFTHITTSDSFNDDEVESEKWYLSTDFPSTSIKTEPVTDEPPPGLVPSVTLTITAISTPLEKEEPPL EMNTGVDSSCQTIIPKIKLEPHEVDQFLNFSPKEAPVDHLHLPPTPLSSHGSDSEGSLSPNPRLHPFSLPQTHSPSRAAP RAPSALSSSPLLTAPHKLQGSGPLVLTEEEKRTLIAEGYPIPTKLPLSKSEEKALKKIRRKIKNKISAQESRRKKKEYMD SLEKKVESCSTENLELRKKVEVLENTNRTLLQQLQKLQTLVMGKVSRTCKLAGTQTGTCLMVVVLCFAVAFGSFFQGYGP YPSATKMALPSQHSLQEPYTASVVRSRNLLIYEEHSPPEESSSPGSAGELGGWDRGSSLLRVSGLESRPDVDLPHFIISN ETSLEKSVLLELQQHLVSAKLEGNETLKVVELDRRVNTTF*

Gene Symbol:	CREB3L2
Accession:	NM_001318246
Location:	EXON
Amino Acid Prediction:	P to L (nonsynonymous)
Amino Acid Position:	144

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEVEPSPTSPAPLIQAEHSYSLCEEPRAQSPFTHITTSDSFNDDEVESEKWYLSTDFPSTSIKTEPVTDEPPPGLVPSVT LTITAISTPLEKEEPPLEMNTGVDSSCQTIIPKIKLEPHEVDQFLNFSPKEAPVDHLHLPPTPLSSHGSDSEGSLSPNPR LHPFSLPQTHSPSRAAPRAPSALSSSPLLTAPHKLQGSGPLVLTEEEKRTLIAEGYPIPTKLPLSKSEEKALKKIRRKIK NKISAQESRRKKKEYMDSLEKKVESCSTENLELRKKVEVLENTNRTLLQQLQKLQTLVMGKVSRTCKLAGTQTGTCLMVV VLCFAVAFGSFFQGYGPYPSATKMALPSQHSLQEPYTASVVRSRNLLIYEEHSPPEESSSPGSAGELGGWDRGSSLLRVS GLESRPDVDLPHFIISNETSLEKSVLLELQQHLVSAKLEGNETLKVVELDRRVNTTF*

Gene Symbol:	CREB3L2
Accession:	NM_001253775
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004091709	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	CREB3L2	CLINVAR
OMIM	608834	CLINVAR