ClinVar

NM_001388419.1(KALRN):c.7174A>G (p.Ser2392Gly)

Gene:

KALRN:kalirin RhoGEF kinase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.2

Genomic location:

• Chr3: 124674595 (on Assembly GRCh38)
• Chr3: 124393442 (on Assembly GRCh37)

Preferred name:

NM_001388419.1(KALRN):c.7174A>G (p.Ser2392Gly)

HGVS:

• NC_000003.12:g.124674595A>G
• NG_012742.2:g.584885A>G
• NM_001024660.5:c.7174A>G
• NM_001322988.2:c.7168A>G
• NM_001322993.2:c.2080A>G
• NM_001322994.2:c.2107A>G
• NM_001322995.2:c.2083A>G
• NM_001322996.2:c.2080A>G
• NM_001322997.2:c.2077A>G
• NM_001322998.2:c.1987A>G
• NM_001322999.2:c.1984A>G
• NM_001323000.2:c.1984A>G
• NM_001323001.2:c.1981A>G
• NM_001388412.1:c.5248A>G
• NM_001388419.1:c.7174A>GMANE SELECT
• NM_007064.5:c.2083A>G
• NP_001019831.2:p.Ser2392Gly
• NP_001309917.1:p.Ser2390Gly
• NP_001309922.1:p.Ser694Gly
• NP_001309923.1:p.Ser703Gly
• NP_001309924.1:p.Ser695Gly
• NP_001309925.1:p.Ser694Gly
• NP_001309926.1:p.Ser693Gly
• NP_001309927.1:p.Ser663Gly
• NP_001309928.1:p.Ser662Gly
• NP_001309929.1:p.Ser662Gly
• NP_001309930.1:p.Ser661Gly
• NP_001375341.1:p.Ser1750Gly
• NP_001375348.1:p.Ser2392Gly
• NP_008995.2:p.Ser695Gly
• NC_000003.11:g.124393442A>G

This HGVS expression did not pass validation

Protein change:

S1750G

Links:

dbSNP: rs992438028

NCBI 1000 Genomes Browser:

rs992438028

Molecular consequence:

• NM_001024660.5:c.7174A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322988.2:c.7168A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322993.2:c.2080A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322994.2:c.2107A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322995.2:c.2083A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322996.2:c.2080A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322997.2:c.2077A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322998.2:c.1987A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322999.2:c.1984A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323000.2:c.1984A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323001.2:c.1981A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001388412.1:c.5248A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_001388419.1:c.7174A>G - missense variant - [Sequence Ontology: SO:0001583]
• NM_007064.5:c.2083A>G - missense variant - [Sequence Ontology: SO:0001583]