Canonical Allele Identifier: CA322328053
Gene: LZTR1 HGNC NCBI
ClinGen Evidence Repository:
Classification Likely Pathogenic
Condition RASopathy
VCEP RASopathy VCEP
COSMIC:
COSM1665940
MyVariant.info:
GRCh38 chr22:g.20992370G>A
GRCh37 chr22:g.21346659G>A
gnomAD v2:
22:21346659 G / A
gnomAD v3:
22:20992370 G / A
gnomAD v4:
chr22-20992370-G-A
Joint Max Group AF 0.00000501 (NFE)
Exomes Max Group AF 0.00000455 (NFE)
ClinVar Allele:
446373
ClinVar RCV:
RCV000522778
RCV002456013
ClinVar Variation:
451722
dbSNP:
767191322
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.20992370G>A , CM000684.2:g.20992370G>A GRCh38
NC_000022.10:g.21346659G>A , CM000684.1:g.21346659G>A GRCh37
NC_000022.9:g.19676659G>A NCBI36
NG_034193.1:g.15102G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000700578.1:c.1149+1G>A ENSP00000515073.1:n.1149+1G>A
ENST00000495142.6:n.494+1G>A
ENST00000642151.1:c.980+1G>A
ENST00000643578.1:n.1171+1G>A
ENST00000646124.2:c.1149+1G>A MANE Select ENSP00000496779.1:n.1149+1G>A
ENST00000646506.1:n.728+1G>A
ENST00000215739.12:c.1149+1G>A ENSP00000215739.8:n.1149+1G>A
ENST00000461510.1:n.251G>A
ENST00000479606.5:n.1295+1G>A
ENST00000492480.1:n.205+1G>A
ENST00000497716.5:n.976+1G>A
NM_006767.3:c.1149+1G>A NP_006758.2:n.1149+1G>A
NM_006767.4:c.1149+1G>A MANE Select NP_006758.2:n.1149+1G>A
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