ClinVar

NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)

Gene:

MCPH1:microcephalin 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8p23.1

Genomic location:

• Chr8: 6445071 (on Assembly GRCh38)
• Chr8: 6302592 (on Assembly GRCh37)

Preferred name:

NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)

HGVS:

• NC_000008.11:g.6445071A>C
• NG_016619.2:g.43480A>C
• NM_001172574.2:c.1349A>C
• NM_001172575.2:c.1205A>C
• NM_001322042.1:c.1349A>C
• NM_001322042.2:c.1349A>C
• NM_001322043.2:c.1343A>C
• NM_001322045.2:c.1247A>C
• NM_001363979.1:c.1349A>C
• NM_001363980.2:c.1349A>C
• NM_024596.5:c.1349A>CMANE SELECT
• NP_001166045.2:p.Lys450Thr
• NP_001166046.1:p.Lys402Thr
• NP_001308971.2:p.Lys450Thr
• NP_001308972.2:p.Lys448Thr
• NP_001308974.2:p.Lys416Thr
• NP_001350908.1:p.Lys450Thr
• NP_001350909.1:p.Lys450Thr
• NP_078872.3:p.Lys450Thr
• NC_000008.10:g.6302592A>C
• NM_024596.3:c.1349A>C
• NM_024596.4:c.1349A>C
• NR_136159.2:n.1275A>C

This HGVS expression did not pass validation

Protein change:

K402T

Links:

dbSNP: rs77959215

NCBI 1000 Genomes Browser:

rs77959215

Molecular consequence:

• NM_001172574.2:c.1349A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001172575.2:c.1205A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322042.2:c.1349A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322043.2:c.1343A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001322045.2:c.1247A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363979.1:c.1349A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_001363980.2:c.1349A>C - missense variant - [Sequence Ontology: SO:0001583]
• NM_024596.5:c.1349A>C - missense variant - [Sequence Ontology: SO:0001583]
• NR_136159.2:n.1275A>C - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Observations:

4