The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries.
[Disclaimer]
- Gene obtained from curated document aligns with the Allele Registry but not with ClinVar data
- No CSPEC computed assertion could be determined for this classification!
Variant: NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
CA358852
209088 (ClinVar)
Gene: LZTR1
Condition: RASopathy
Inheritance Mode: Autosomal dominant inheritance
UUID: 8343c604-e796-4093-aa1e-f3c39aa13256
Approved on: 2024-09-17
Published on: 2024-09-30
HGVS expressions
NM_006767.4:c.742G>A
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg)
NC_000022.11:g.20990476G>A
CM000684.2:g.20990476G>A
NC_000022.10:g.21344765G>A
CM000684.1:g.21344765G>A
NC_000022.9:g.19674765G>A
NG_034193.1:g.13208G>A
ENST00000700578.1:c.742G>A
ENST00000642151.1:c.573G>A
ENST00000646124.2:c.742G>A
ENST00000646506.1:n.321G>A
ENST00000215739.12:c.742G>A
ENST00000414985.5:c.*308G>A
ENST00000479606.5:n.888G>A
ENST00000480895.1:n.438G>A
ENST00000497716.5:n.125G>A
NM_006767.3:c.742G>A
Evidence submitted by expert panel
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