ClinVar

NM_001378107.1(R3HDM1):c.2083C>T (p.Arg695Cys)

Gene:

R3HDM1:R3H domain containing 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q21.3

Genomic location:

• Chr2: 135661324 (on Assembly GRCh38)
• Chr2: 136418894 (on Assembly GRCh37)

Preferred name:

NM_001378107.1(R3HDM1):c.2083C>T (p.Arg695Cys)

HGVS:

• NC_000002.12:g.135661324C>T
• NM_001282798.2:c.1981C>T
• NM_001282799.2:c.1594C>T
• NM_001282800.2:c.1813C>T
• NM_001354199.2:c.1978C>T
• NM_001354200.2:c.1981C>T
• NM_001378107.1:c.2083C>TMANE SELECT
• NM_015361.4:c.1978C>T
• NP_001269727.1:p.Arg661Cys
• NP_001269728.1:p.Arg532Cys
• NP_001269729.1:p.Arg605Cys
• NP_001341128.1:p.Arg660Cys
• NP_001341129.1:p.Arg661Cys
• NP_001365036.1:p.Arg695Cys
• NP_056176.2:p.Arg660Cys
• NC_000002.11:g.136418894C>T
• NM_015361.2:c.1978C>T

This HGVS expression did not pass validation

Protein change:

R532C

Molecular consequence:

• NM_001282798.2:c.1981C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282799.2:c.1594C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282800.2:c.1813C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354199.2:c.1978C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354200.2:c.1981C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378107.1:c.2083C>T - missense variant - [Sequence Ontology: SO:0001583]
• NM_015361.4:c.1978C>T - missense variant - [Sequence Ontology: SO:0001583]