ClinVar

NM_001171109.2(FAM133A):c.307C>T (p.Arg103Trp)

Gene:

FAM133A:family with sequence similarity 133 member A [Gene - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

Xq21.32

Genomic location:

• ChrX: 93709726 (on Assembly GRCh38)
• ChrX: 92964725 (on Assembly GRCh37)

Preferred name:

NM_001171109.2(FAM133A):c.307C>T (p.Arg103Trp)

HGVS:

• NC_000023.11:g.93709726C>T
• NG_016400.1:g.40714C>T
• NM_001171109.2:c.307C>TMANE SELECT
• NM_001171110.2:c.307C>T
• NM_001171111.2:c.307C>T
• NM_173698.3:c.307C>T
• NP_001164580.1:p.Arg103Trp
• NP_001164581.1:p.Arg103Trp
• NP_001164582.1:p.Arg103Trp
• NP_775969.1:p.Arg103Trp
• NC_000023.10:g.92964725C>T

This HGVS expression did not pass validation

Protein change:

R103W

Molecular consequence:

• NM_001171109.2:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171110.2:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001171111.2:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_173698.3:c.307C>T - missense variant - [Sequence Ontology: SO:0001583]

Observations:

1