ClinVar

NM_014425.5(INVS):c.1945G>A (p.Val649Met)

Gene:

INVS:inversin [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

9q31.1

Genomic location:

• Chr9: 100284480 (on Assembly GRCh38)
• Chr9: 103046762 (on Assembly GRCh37)

Preferred name:

NM_014425.5(INVS):c.1945G>A (p.Val649Met)

HGVS:

• NC_000009.12:g.100284480G>A
• NG_008316.1:g.190252G>A
• NM_001318381.2:c.1657G>A
• NM_001318382.2:c.967G>A
• NM_014425.4:c.1945G>A
• NM_014425.5:c.1945G>AMANE SELECT
• NP_001305310.1:p.Val553Met
• NP_001305311.1:p.Val323Met
• NP_055240.2:p.Val649Met
• NC_000009.11:g.103046762G>A
• NM_014425.3:c.1945G>A
• NR_134606.2:n.2143G>A

This HGVS expression did not pass validation

Protein change:

V323M

Links:

dbSNP: rs115042730

NCBI 1000 Genomes Browser:

rs115042730

Molecular consequence:

• NM_001318381.2:c.1657G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001318382.2:c.967G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_014425.5:c.1945G>A - missense variant - [Sequence Ontology: SO:0001583]
• NR_134606.2:n.2143G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

5