ClinVar

NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln)

Gene:

LMF1:lipase maturation factor 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 870870 (on Assembly GRCh38)
• Chr16: 920870 (on Assembly GRCh37)

Preferred name:

NM_022773.4(LMF1):c.1091G>A (p.Arg364Gln)

HGVS:

• NC_000016.10:g.870870C>T
• NG_021286.2:g.115746G>A
• NM_001352017.2:c.440G>A
• NM_001352018.2:c.692G>A
• NM_001352019.2:c.764G>A
• NM_001352020.1:c.1091G>A
• NM_001352021.2:c.440G>A
• NM_022773.4:c.1091G>AMANE SELECT
• NP_001338946.1:p.Arg147Gln
• NP_001338947.1:p.Arg231Gln
• NP_001338948.1:p.Arg255Gln
• NP_001338949.1:p.Arg364Gln
• NP_001338950.1:p.Arg147Gln
• NP_073610.2:p.Arg364Gln
• NC_000016.9:g.920870C>T
• NC_000016.9:g.920870C>T
• NM_022773.2:c.1091G>A
• NM_022773.3:c.1091G>A
• NR_147885.2:n.1095G>A

This HGVS expression did not pass validation

Protein change:

R147Q

Links:

dbSNP: rs35168378

NCBI 1000 Genomes Browser:

rs35168378

Molecular consequence:

• NM_001352017.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352018.2:c.692G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352019.2:c.764G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352020.1:c.1091G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001352021.2:c.440G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_022773.4:c.1091G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_147885.2:n.1095G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]