ClinVar

NM_207338.4(LCTL):c.1505G>C (p.Gly502Ala)

Gene:

LCTL:lactase like [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

15q22.31

Genomic location:

• Chr15: 66551681 (on Assembly GRCh38)
• Chr15: 66844019 (on Assembly GRCh37)

Preferred name:

NM_207338.4(LCTL):c.1505G>C (p.Gly502Ala)

HGVS:

• NC_000015.10:g.66551681C>G
• NM_001278562.3:c.986G>C
• NM_001394632.1:c.805+362G>C
• NM_001394633.1:c.709+362G>C
• NM_207338.4:c.1505G>CMANE SELECT
• NP_001265491.1:p.Gly329Ala
• NP_997221.2:p.Gly502Ala
• NC_000015.9:g.66844019C>G
• NM_207338.2:c.1505G>C
• NR_172140.1:n.741G>C

This HGVS expression did not pass validation

Protein change:

G329A

Molecular consequence:

• NM_001394632.1:c.805+362G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001394633.1:c.709+362G>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001278562.3:c.986G>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_207338.4:c.1505G>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_172140.1:n.741G>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]