ClinVar

NM_032448.3(FAM120B):c.137T>C (p.Met46Thr)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

6q27

Genomic location:

• Chr6: 170317527 (on Assembly GRCh38)
• Chr6: 170626615 (on Assembly GRCh37)

Preferred name:

NM_032448.3(FAM120B):c.137T>C (p.Met46Thr)

HGVS:

• NC_000006.12:g.170317527T>C
• NM_001286379.2:c.173T>C
• NM_001286380.2:c.206T>C
• NM_001286381.2:c.-90+10685T>C
• NM_032448.3:c.137T>CMANE SELECT
• NP_001273308.1:p.Met58Thr
• NP_001273309.1:p.Met69Thr
• NP_115824.1:p.Met46Thr
• NC_000006.11:g.170626615T>C
• NM_032448.1:c.137T>C

This HGVS expression did not pass validation

Protein change:

M46T

Molecular consequence:

• NM_001286381.2:c.-90+10685T>C - intron variant - [Sequence Ontology: SO:0001627]
• NM_001286379.2:c.173T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001286380.2:c.206T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_032448.3:c.137T>C - missense variant - [Sequence Ontology: SO:0001583]