ClinVar

NM_001127671.2(LIFR):c.3087A>G (p.Arg1029=)

Gene:

LIFR:LIF receptor subunit alpha [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5p13.1

Genomic location:

• Chr5: 38481802 (on Assembly GRCh38)
• Chr5: 38481904 (on Assembly GRCh37)

Preferred name:

NM_001127671.2(LIFR):c.3087A>G (p.Arg1029=)

HGVS:

• NC_000005.10:g.38481802T>C
• NG_011817.1:g.118604A>G
• NM_001127671.2:c.3087A>GMANE SELECT
• NM_001364297.2:c.3087A>G
• NM_001364298.2:c.3054A>G
• NM_002310.6:c.3087A>G
• NP_001121143.1:p.Arg1029=
• NP_001351226.1:p.Arg1029=
• NP_001351227.1:p.Arg1018=
• NP_002301.1:p.Arg1029=
• NC_000005.9:g.38481904T>C
• NM_002310.5:c.3087A>G
• p.Arg1029Arg

This HGVS expression did not pass validation

Links:

dbSNP: rs138418444

NCBI 1000 Genomes Browser:

rs138418444

Molecular consequence:

• NM_001127671.2:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364297.2:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001364298.2:c.3054A>G - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_002310.6:c.3087A>G - synonymous variant - [Sequence Ontology: SO:0001819]