ClinVar

NM_198271.5(LMOD3):c.837G>A (p.Lys279=)

Gene:

LMOD3:leiomodin 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3p14.1

Genomic location:

• Chr3: 69119518 (on Assembly GRCh38)
• Chr3: 69168669 (on Assembly GRCh37)

Preferred name:

NM_198271.5(LMOD3):c.837G>A (p.Lys279=)

HGVS:

• NC_000003.12:g.69119518C>T
• NG_041828.1:g.8078G>A
• NM_001304418.3:c.837G>A
• NM_198271.5:c.837G>AMANE SELECT
• NP_001291347.1:p.Lys279=
• NP_938012.2:p.Lys279=
• NC_000003.11:g.69168669C>T
• NM_198271.4:c.837G>A

This HGVS expression did not pass validation

Links:

dbSNP: rs185967498

NCBI 1000 Genomes Browser:

rs185967498

Molecular consequence:

• NM_001304418.3:c.837G>A - synonymous variant - [Sequence Ontology: SO:0001819]
• NM_198271.5:c.837G>A - synonymous variant - [Sequence Ontology: SO:0001819]