ClinVar

NM_022773.4(LMF1):c.1608G>T (p.Val536=)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

16p13.3

Genomic location:

• Chr16: 854628 (on Assembly GRCh38)
• Chr16: 904628 (on Assembly GRCh37)

Preferred name:

NM_022773.4(LMF1):c.1608G>T (p.Val536=)

HGVS:

• NC_000016.10:g.854628C>A
• NG_021286.2:g.131988G>T
• NM_001352017.2:c.957G>T
• NM_001352018.2:c.1209G>T
• NM_001352019.2:c.1281G>T
• NM_001352020.1:c.1528G>T
• NM_001352021.2:c.957G>T
• NM_022773.4:c.1608G>TMANE SELECT
• NP_001338946.1:p.Val319=
• NP_001338947.1:p.Val403=
• NP_001338948.1:p.Val427=
• NP_001338949.1:p.Ala510Ser
• NP_001338950.1:p.Val319=
• NP_073610.2:p.Val536=
• NC_000016.9:g.904628C>A
• NC_000016.9:g.904628C>A
• NM_022773.2:c.1608G>T
• NR_147885.2:n.1770G>T

This HGVS expression did not pass validation

Protein change:

A510S

Links:

dbSNP: rs201012186

NCBI 1000 Genomes Browser:

rs201012186

Molecular consequence:

• NM_001352020.1:c.1528G>T - missense variant - [Sequence Ontology: SO:0001583]
• NR_147885.2:n.1770G>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NM_001352017.2:c.957G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352018.2:c.1209G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352019.2:c.1281G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_001352021.2:c.957G>T - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_022773.4:c.1608G>T - synonymous variant - [Sequence Ontology: SO:0001819]