ClinVar

NM_001378107.1(R3HDM1):c.2470G>A (p.Gly824Ser)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q21.3

Genomic location:

• Chr2: 135709443 (on Assembly GRCh38)
• Chr2: 136467013 (on Assembly GRCh37)

Preferred name:

NM_001378107.1(R3HDM1):c.2470G>A (p.Gly824Ser)

HGVS:

• NC_000002.12:g.135709443G>A
• NM_001282798.2:c.2368G>A
• NM_001282799.2:c.1981G>A
• NM_001282800.2:c.2200G>A
• NM_001354199.2:c.2365G>A
• NM_001354200.2:c.2368G>A
• NM_001378107.1:c.2470G>AMANE SELECT
• NM_015361.4:c.2365G>A
• NP_001269727.1:p.Gly790Ser
• NP_001269728.1:p.Gly661Ser
• NP_001269729.1:p.Gly734Ser
• NP_001341128.1:p.Gly789Ser
• NP_001341129.1:p.Gly790Ser
• NP_001365036.1:p.Gly824Ser
• NP_056176.2:p.Gly789Ser
• NC_000002.11:g.136467013G>A
• NM_015361.2:c.2365G>A

This HGVS expression did not pass validation

Protein change:

G661S

Molecular consequence:

• NM_001282798.2:c.2368G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282799.2:c.1981G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282800.2:c.2200G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354199.2:c.2365G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354200.2:c.2368G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378107.1:c.2470G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015361.4:c.2365G>A - missense variant - [Sequence Ontology: SO:0001583]