ClinVar

NM_032448.3(FAM120B):c.92G>A (p.Arg31Gln)

Gene:

FAM120B:family with sequence similarity 120 member B [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

6q27

Genomic location:

• Chr6: 170317482 (on Assembly GRCh38)
• Chr6: 170626570 (on Assembly GRCh37)

Preferred name:

NM_032448.3(FAM120B):c.92G>A (p.Arg31Gln)

HGVS:

• NC_000006.12:g.170317482G>A
• NM_001286379.2:c.128G>A
• NM_001286380.2:c.161G>A
• NM_001286381.2:c.-90+10640G>A
• NM_032448.3:c.92G>AMANE SELECT
• NP_001273308.1:p.Arg43Gln
• NP_001273309.1:p.Arg54Gln
• NP_115824.1:p.Arg31Gln
• NC_000006.11:g.170626570G>A
• NM_032448.1:c.92G>A

This HGVS expression did not pass validation

Protein change:

R31Q

Molecular consequence:

• NM_001286381.2:c.-90+10640G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286379.2:c.128G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286380.2:c.161G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_032448.3:c.92G>A - missense variant - [Sequence Ontology: SO:0001583]