ClinVar

NM_001199383.2(RNF145):c.1037T>G (p.Leu346Arg)

Gene:

RNF145:ring finger protein 145 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

5q33.3

Genomic location:

• Chr5: 159168957 (on Assembly GRCh38)
• Chr5: 158595965 (on Assembly GRCh37)

Preferred name:

NM_001199383.2(RNF145):c.1037T>G (p.Leu346Arg)

HGVS:

• NC_000005.10:g.159168957A>C
• NM_001199380.2:c.1127T>G
• NM_001199381.2:c.1088T>G
• NM_001199382.2:c.1079T>G
• NM_001199383.2:c.1037T>GMANE SELECT
• NM_144726.3:c.1121T>G
• NP_001186309.1:p.Leu376Arg
• NP_001186310.1:p.Leu363Arg
• NP_001186311.1:p.Leu360Arg
• NP_001186312.1:p.Leu346Arg
• NP_653327.1:p.Leu374Arg
• NC_000005.9:g.158595965A>C
• NM_001199380.1:c.1127T>G

This HGVS expression did not pass validation

Protein change:

L346R

Molecular consequence:

• NM_001199380.2:c.1127T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199381.2:c.1088T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199382.2:c.1079T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001199383.2:c.1037T>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_144726.3:c.1121T>G - missense variant - [Sequence Ontology: SO:0001583]