Variant #0000335214 (NC_000023.10:g.111903870T>C, LHFPL1(NM_178175.3):c.466A>G)

Chromosome X
Allele Unknown
Affects function (as reported) Effect unknown
Affects function (by curator) Not classified
Classification method -
Clinical classification VUS
DNA change (genomic) (Relative to hg19 / GRCh37) g.111903870T>C
DNA change (hg38) g.112660642T>C
Published as LHFPL1(NM_178175.3):c.466A>G (p.(Asn156Asp))
ISCN -
DB-ID LHFPL1_000004
Variant remarks VKGL data sharing initiative Nederland
Reference -
ClinVar ID -
dbSNP ID -
Origin CLASSIFICATION record
Segregation -
Frequency -
Re-site -
VIP 0
Methylation -
Average frequency (gnomAD v.2.1.1) 4.0E-5 View details
Owner VKGL-NL_Leiden
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by VKGL-NL_Leiden
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Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     
LHFPL1 NM_178175.3 ?/. - c.466A>G r.(?) p.(Asn156Asp)