ClinVar

NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg)

Gene:

HEATR3:HEAT repeat containing 3 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

16q12.1

Genomic location:

• Chr16: 50070178 (on Assembly GRCh38)
• Chr16: 50104089 (on Assembly GRCh37)

Preferred name:

NM_182922.4(HEATR3):c.400T>C (p.Cys134Arg)

HGVS:

• NC_000016.10:g.50070178T>C
• NM_001329729.2:c.49T>C
• NM_001329730.2:c.49T>C
• NM_001329731.2:c.-184T>C
• NM_182922.4:c.400T>CMANE SELECT
• NP_001316658.1:p.Cys17Arg
• NP_001316659.1:p.Cys17Arg
• NP_891552.1:p.Cys134Arg
• NC_000016.9:g.50104089T>C
• NM_182922.3:c.400T>C
• NR_138092.2:n.562T>C
• NR_138093.2:n.562T>C

This HGVS expression did not pass validation

Protein change:

C134R; CYS134ARG

Links:

OMIM: 614951.0003; dbSNP: rs1184398890

NCBI 1000 Genomes Browser:

rs1184398890

Molecular consequence:

• NM_001329731.2:c.-184T>C - 5 prime UTR variant - [Sequence Ontology: SO:0001623]
• NM_001329729.2:c.49T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001329730.2:c.49T>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_182922.4:c.400T>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_138092.2:n.562T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]
• NR_138093.2:n.562T>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]