Skip to main content

Table 1 MC4R variants identified in 120 ethnically matched controls, excluding sequenced members of the studied kindred

From: Heterozygous versus homozygous phenotype caused by the same MC4R mutation: novel mutation affecting a large consanguineous kindred

Mutation Type

Transcript Variant

Protein Variant

No. of subjects with genotype (All heterozygous)

dbSNP ID

ExAC Frequency

Synonymous

c.594Cā€‰>ā€‰T

p.I198I

1

61,741,819

0.003676

Synonymous

c.690Cā€‰>ā€‰T

p.P230P

1

148,026,669

2.472e-05

Missense

c.606Cā€‰>ā€‰A

p.F202Ā L

1

138,281,308

0.0008488

Missense

c.307Gā€‰>ā€‰A

p.V103I

4

2,229,616

0.01743

Stop gain

c.124Gā€‰>ā€‰T

p.E42

0

ā€“

ā€“