ClinVar

NM_003235.5(TG):c.7363C>T (p.Arg2455Cys)

Genes:

SLA:Src like adaptor [Gene - OMIM - HGNC]
TG:thyroglobulin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q24.22

Genomic location:

• Chr8: 133095167 (on Assembly GRCh38)
• Chr8: 134107411 (on Assembly GRCh37)

Preferred name:

NM_003235.5(TG):c.7363C>T (p.Arg2455Cys)

HGVS:

• NC_000008.11:g.133095167C>T
• NG_015832.1:g.233207C>T
• NG_015832.2:g.233211C>T
• NM_001045556.3:c.-319+7386G>AMANE SELECT
• NM_001045557.3:c.11+7386G>A
• NM_001282964.2:c.11+7386G>A
• NM_001282965.2:c.-264+7386G>A
• NM_003235.5:c.7363C>TMANE SELECT
• NP_003226.4:p.Arg2455Cys
• NC_000008.10:g.134107411C>T
• NM_003235.4:c.7363C>T

This HGVS expression did not pass validation

Protein change:

R2455C

Links:

dbSNP: rs201444172

NCBI 1000 Genomes Browser:

rs201444172

Molecular consequence:

• NM_001045556.3:c.-319+7386G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001045557.3:c.11+7386G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282964.2:c.11+7386G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_001282965.2:c.-264+7386G>A - intron variant - [Sequence Ontology: SO:0001627]
• NM_003235.5:c.7363C>T - missense variant - [Sequence Ontology: SO:0001583]