chr2:48688137:G>A Detail (hg38) (LHCGR, STON1-GTF2A1L)

Information

Genome

Assembly Position
hg19 chr2:48,915,276-48,915,276 View the variant detail on this assembly version.
hg38 chr2:48,688,137-48,688,137

HGVS

Type Transcript Protein
RefSeq NM_000233.3:c.1660C>T NP_000224.2:p.Arg554Ter
Ensemble ENST00000294954.12:c.1660C>T ENST00000294954.12:p.Arg554Ter
ENST00000401907.5:c.950C>T ENST00000401907.5:p.Ser317Leu
Type Transcript Protein
RefSeq NM_001198593.1:c.3441+16457G>A
Ensemble ENST00000402114.6:c.3441+16457G>A
Summary

MGeND

Clinical significance
Variant entry
GWAS entry
Disease area statistics Show details

Frequency

[No Data.]

Prediction

ClinVar

Clinical Significance Pathogenic Likely pathogenic
Review star
Show details
Links
Type Database ID Link
Gene MIM 152790 OMIM
HGNC 6585 HGNC
Ensembl ENSG00000138039 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6820211 TogoVar
COSMIC COSM95625 COSMIC
MONDO
Type Database ID Link
Gene MIM
HGNC 30651 HGNC
Ensembl ENSG00000068781 Ensembl
NCBI NCBI
Gene Cards Gene Cards
OncoKB OncoKB
Type Database ID Link
Variant TogoVar tgv6820211 TogoVar
COSMIC COSM95625 COSMIC
MONDO
Disease area statistics
[No Data.]
MGeND
[No Data.]
ClinVar
Clinical significance Last evaluated Review status Condition Origin Links
Pathogenic 1996-02-22 no assertion criteria provided Leydig cell agenesis germline Detail
Pathogenic 1996-02-22 no assertion criteria provided Luteinizing hormone resistance, female germline Detail
Pathogenic 2023-11-07 criteria provided, multiple submitters, no conflicts not provided germline Detail
Likely pathogenic 2020-04-17 criteria provided, single submitter germline Detail
CIViC
[No Data.]
DisGeNET
[No Data.]
Annotation

Annotations

DescrptionSourceLinks
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) AND Leydig cell agenesis ClinVar Detail
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) AND Luteinizing hormone resistance, female ClinVar Detail
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) AND not provided ClinVar Detail
NM_000233.4(LHCGR):c.1660C>T (p.Arg554Ter) AND See cases ClinVar Detail

Overlapped Transcript Coordinates

Gene Transcript ID Exon Number Chromosome Start Stop Type Amino Mutation Transcript Position Links

Overlapped Transcript

Gene Transcript ID Chromosome Start Stop Links
Gene
-
dbSNP
rs121912524 dbSNP
Genome
hg38
Position
chr2:48,688,137-48,688,137
Variant Type
snv
Reference Allele
G
Alternative Allele
A
Genome browser