ClinVar

NM_001388419.1(KALRN):c.6689G>A (p.Arg2230Gln)

Gene:

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

Variant type:

single nucleotide variant

Cytogenetic location:

3q21.2

Genomic location:

• Chr3: 124667169 (on Assembly GRCh38)
• Chr3: 124386016 (on Assembly GRCh37)

Preferred name:

NM_001388419.1(KALRN):c.6689G>A (p.Arg2230Gln)

HGVS:

• NC_000003.12:g.124667169G>A
• NG_012742.2:g.577459G>A
• NM_001024660.5:c.6686G>A
• NM_001322988.2:c.6683G>A
• NM_001322993.2:c.1595G>A
• NM_001322994.2:c.1622G>A
• NM_001322995.2:c.1595G>A
• NM_001322996.2:c.1595G>A
• NM_001322997.2:c.1592G>A
• NM_001322998.2:c.1499G>A
• NM_001322999.2:c.1496G>A
• NM_001323000.2:c.1499G>A
• NM_001323001.2:c.1496G>A
• NM_001388412.1:c.4763G>A
• NM_001388419.1:c.6689G>AMANE SELECT
• NM_007064.5:c.1595G>A
• NP_001019831.2:p.Arg2229Gln
• NP_001309917.1:p.Arg2228Gln
• NP_001309922.1:p.Arg532Gln
• NP_001309923.1:p.Arg541Gln
• NP_001309924.1:p.Arg532Gln
• NP_001309925.1:p.Arg532Gln
• NP_001309926.1:p.Arg531Gln
• NP_001309927.1:p.Arg500Gln
• NP_001309928.1:p.Arg499Gln
• NP_001309929.1:p.Arg500Gln
• NP_001309930.1:p.Arg499Gln
• NP_001375341.1:p.Arg1588Gln
• NP_001375348.1:p.Arg2230Gln
• NP_008995.2:p.Arg532Gln
• NC_000003.11:g.124386016G>A

This HGVS expression did not pass validation

Protein change:

R1588Q

Links:

dbSNP: rs747043605

NCBI 1000 Genomes Browser:

rs747043605

Molecular consequence:

• NM_001024660.5:c.6686G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322988.2:c.6683G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322993.2:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322994.2:c.1622G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322995.2:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322996.2:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322997.2:c.1592G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322998.2:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322999.2:c.1496G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323000.2:c.1499G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001323001.2:c.1496G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001388412.1:c.4763G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_001388419.1:c.6689G>A - missense variant - [Sequence Ontology: SO:0001583]
• NM_007064.5:c.1595G>A - missense variant - [Sequence Ontology: SO:0001583]