ClinVar

NM_001378107.1(R3HDM1):c.1787G>A (p.Gly596Asp)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

2q21.3

Genomic location:

• Chr2: 135651791 (on Assembly GRCh38)
• Chr2: 136409361 (on Assembly GRCh37)

Preferred name:

NM_001378107.1(R3HDM1):c.1787G>A (p.Gly596Asp)

HGVS:

• NC_000002.12:g.135651791G>A
• NM_001282798.2:c.1685G>A
• NM_001282799.2:c.1298G>A
• NM_001282800.2:c.1517G>A
• NM_001354199.2:c.1682G>A
• NM_001354200.2:c.1685G>A
• NM_001378107.1:c.1787G>AMANE SELECT
• NM_015361.4:c.1682G>A
• NP_001269727.1:p.Gly562Asp
• NP_001269728.1:p.Gly433Asp
• NP_001269729.1:p.Gly506Asp
• NP_001341128.1:p.Gly561Asp
• NP_001341129.1:p.Gly562Asp
• NP_001365036.1:p.Gly596Asp
• NP_056176.2:p.Gly561Asp
• NC_000002.11:g.136409361G>A
• NM_015361.2:c.1682G>A

This HGVS expression did not pass validation

Protein change:

G433D

Molecular consequence:

• NM_001282798.2:c.1685G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282799.2:c.1298G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001282800.2:c.1517G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354199.2:c.1682G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001354200.2:c.1685G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001378107.1:c.1787G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_015361.4:c.1682G>A - missense variant - [Sequence Ontology: SO:0001583]