RGD:155974593 Rat Genome Database

RGD:155974593 Rat Genome Database

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Variant: RGD:155974593 - Homo sapiens

RGD ID:

155974593

ClinVar ID:

CV2269975

Genic Status:

GENIC

Type:

SNV (SO:0001483)

Associated Genes:

CREB3L2 LOC127457768

Reference Nucleotide:

C

Variant Nucleotide:

T

Position

Assembly	Chr	Position
GRCh37	7	137,569,846
GRCh38	7	137,885,100

JBrowse:

View Region in Genome Browser (JBrowse)

Model

HGVS Name(s)	Last Evaluated	Molecular Consequence	Clinical Significance	Trait Synonyms
NM_194071.4:c.1165G>A NG_112542.1:g.444C>T NC_000007.14:g.137885100C>T NC_000007.13:g.137569846C>T More...	02/17/2022	missense variant	uncertain significance	AllHighlyPenetrant

Gene Symbol:	CREB3L2
Accession:	NM_194071
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	389

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

Gene Symbol:	CREB3L2
Accession:	NM_001318246
Location:	EXON
Amino Acid Prediction:	V to I (nonsynonymous)
Amino Acid Position:	326

Amino Acid Sequence (Calculated using NCBI transcript definition)
MEVEPSPTSPAPLIQAEHSYSLCEEPRAQSPFTHITTSDSFNDDEVESEKWYLSTDFPSTSIKTEPVTDEPPPGLVPSVT LTITAISTPLEKEEPPLEMNTGVDSSCQTIIPKIKLEPHEVDQFLNFSPKEAPVDHLHLPPTPPSSHGSDSEGSLSPNPR LHPFSLPQTHSPSRAAPRAPSALSSSPLLTAPHKLQGSGPLVLTEEEKRTLIAEGYPIPTKLPLSKSEEKALKKIRRKIK NKISAQESRRKKKEYMDSLEKKVESCSTENLELRKKVEVLENTNRTLLQQLQKLQTLVMGKVSRTCKLAGTQTGTCLMVV VLCFAIAFGSFFQGYGPYPSATKMALPSQHSLQEPYTASVVRSRNLLIYEEHSPPEESSSPGSAGELGGWDRGSSLLRVS GLESRPDVDLPHFIISNETSLEKSVLLELQQHLVSAKLEGNETLKVVELDRRVNTTF*

Gene Symbol:	CREB3L2
Accession:	NM_001253775
Location:	INTRON

ClinVar GRCh37	ClinVar GRCh38

Database	Acc Id	Source(s)
ClinVar	RCV004128969	CLINVAR
MedGen	CN169374	CLINVAR
NCBI Gene	CREB3L2	CLINVAR
OMIM	608834	CLINVAR