ClinVar

NM_033402.5(LRRCC1):c.245G>A (p.Gly82Glu)

Gene:

LRRCC1:leucine rich repeat and coiled-coil centrosomal protein 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q21.2

Genomic location:

• Chr8: 85109735 (on Assembly GRCh38)
• Chr8: 86021970 (on Assembly GRCh37)

Preferred name:

NM_033402.5(LRRCC1):c.245G>A (p.Gly82Glu)

HGVS:

• NC_000008.11:g.85109735G>A
• NG_053066.1:g.7648G>A
• NM_001349636.2:c.32-380G>A
• NM_001349637.2:c.-158-380G>A
• NM_001349638.2:c.-267G>A
• NM_001349639.2:c.-247-380G>A
• NM_033402.5:c.245G>AMANE SELECT
• NP_208325.3:p.Gly82Glu
• NC_000008.10:g.86021970G>A
• NM_033402.4:c.245G>A

This HGVS expression did not pass validation

Protein change:

G82E

Molecular consequence:

• NM_001349638.2:c.-267G>A - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001349636.2:c.32-380G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349637.2:c.-158-380G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001349639.2:c.-247-380G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_033402.5:c.245G>A - missense variant - [Sequence Ontology: SO:0001583]